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Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.

A 52-year-old male patient with polyarthritis nodosa (PAN) was referred to our neurology outpatient clinic. His main symptom was paroxysmal alternating bilateral blindness. Subsequently, he developed retro-orbital pain. Neurological examination including funduscopy was normal and laboratory tests showed no relevant abnormalities. MRI orbits showed remarkable perineural thickening and contrast enhancement of the optic nerve sheaths with sparing of the central optic nerve. These findings are pathognomonic for the clinical-radiological diagnosis of optic perineuritis (OPN). The patient was treated with high-dose immunosuppressants and had a good clinical outcome. Rapid diagnosis of OPN is important because early treatment is associated with a better outcome.

Dorsal arachnoidal webs are condensations of arachnoidal tissue densely adherent to the pial surface of the posterior aspect of the dorsal spinal cord. Infrequently described in literature they disrupt the flow of CSF in the spinal subarachnoid space leading to syringomyelia and myelopathy. While there are several theories on their origin, the “scalpel sign” on magnetic resonance imaging is considered to be pathognomonic of this condition. An illustrative case of a 58 year old man with syringomyelia and dorsal cord indentation who presented with spastic paraparesis, gait instability, parasthesias and bilateral non radicular upper limb pain that resolved following excision of the web is described to highlight the importance of considering this diagnosis when cases of so called “idiopathic” syringomyelia are encountered.

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of ‘H-syndrome’. The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the SLC29A3 gene (variant: c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this syndrome.

Hodgkin's lymphoma is due to the clonal transformation of cells originating from B lymphocytes, generating the pathognomonic binucleate Reed-Sternberg cells. Hodgkin's lymphoma is a B cell disease with a bimodal distribution, with higher incidence in adolescence and the third decade of life, showing a second peak in people over 55 years of age. Classic Hodgkin lymphoma cells routinely undergo gene expression reprogramming, as they lose the expression of most of the typical B-cell genes and acquire the expression of multiple genes that are typical of other types of cells in the immune system. The treatment algorithm will depend on whether it is classic or predominantly lymphocytic HL, if it is early stage with unfavorable prognostic markers or not, the initial management regimen, and whether there is bulky disease, among the most relevant variables.

INTRODUCTION The World Health Organization (WHO) has listed 525 different drugs, that can lead to acute pancreatitis cases, as a medication side-effect. Among them, methimazole (MMI also known as thiamazole, the active form of carbimazole - CBZ) was included. We reported case reports of patients with overall features compatible with acute pancreatitis episodes following and presumably triggered by the exposure to MMI and its prodrug CBZ. EVIDENCE ACQUISITION A systematic search was performed on MEDLINE (PubMed) We included case reports of patients with overall features compatible with acute pancreatitis episodes following and presumably triggered by the exposure to MMI and its prodrug CBZ Data extraction and analysis were undertaken in duplicate. EVIDENCE SYNTHESIS We identified 7 case reports. The majority of patients were female and one patient was male. Mean age at baseline ranged from 18 to 80 years old. The average time, that elapses between the initiation of the therapy with MMI/CBZ and the onset of typical clinical signs and symptoms pathognomonic of acute pancreatitis, was 2-3 weeks. CONCLUSIONS Based on the data derived from these case reports, it could be considered the possibility of a potential association between MMI/CBZ exposure. Evidence is, however, limited and requires more studies of high quality to confirm this association.

An 83-year-old woman was referred to hospital with a 2-week history of short-lived episodic unpleasant sensations in her head and running down her body. This was accompanied by new short-term memory impairment and arm spasms. Initial investigations including blood tests and brain imaging did not reveal the diagnosis. The patient developed an increasing frequency of abnormal movements of her face and arm. These were clinically recognised as faciobrachial dystonic seizures (FBDS). FBDS are pathognomonic of an autoimmune encephalitis caused by an antibody directed against leucine-rich glioma-inactivated 1 (LGI1). The clinical diagnosis resulted in treatment with immunotherapy, leading to cessation of seizures and rapid cognitive recovery. Later, the predicted serology was confirmed. This reversible and under-recognised cause of cognitive impairment, typically affecting elderly patients, can be diagnosed clinically to enable early and effective treatment.

Background. Genetic polyneuropathies belong to systemic degenerative diseases of the nervous and muscular systems of genetic nature, which quite often lead to disorders of the musculoskeletal system. The purpose of our study was to evaluate the neurological condition of persons with genetic polyneuropathies at the stage of preoperative preparation. Materials and methods. 87 patients of the decreed group aged 12 to 57 years were examined. The control group consisted of 10 patients with traumatic injury of soft tissues and peripheral nerves of lower extremities and 10 patients with longitudinal flatfoot of young and middle age. All patients were subject to detailed orthopedic and neurological examination. Results. In all patients with genetic polyneuropathies, we have detected even, on both sides, reduction of tendon and periosteous reflexes in the lower extremities, which correlated with duration of the disease and the nature of genetic malformations. There was recorded a reduction of pain attenuation by the distal type: in the mild lesion — at the level of toes, in the moderate form — these violations have spread to the level of the tibia, and in the severe forms they reached the middle third of the tibia or the level of the knee joints. In mild genetic polyneuropathy, vibration sensitivity in feet was decreased up to 12–14 seconds (in patients in the control group it was about 15–16 seconds or more), in the moderate level of the process — up to 7–11 seconds, in severe forms — up to 0–4 seconds. Motor function disorders in polyneuropathic foot were reduced to the symmetric decrease of muscle strength in the distal limbs, and 12 patients with the severe form of Charcot-Marie-Tooth had paresis of the feet, 2 patients had the symptoms of proximal amyotrophy of the leg muscles. The vast majority of patients had significant vegetative trophic disorders of the segmental level, mainly in the distal segments of legs. In particular, changes occurred in the skin. In the distal segments of legs in 48 patients, it was dry, desquamated, with numerous fissures, hyperkeratosis, roughness, calluses (especially in soles). Swelling on the dorsum of the foot was diagnosed in the lower third of the tibia as well. The vascular pattern was abnormal in 36 patients by parasympathicotonic type, and in 19 patients — by sympathicotonic. Nails were atrophic, with their color changed. Trophic changes were also observed in soft tissues located deeper. Conclusions. Genetic neuropathies are accompanied with severe orthopedic disorders, predominantly in the skeletal structures of the foot. Pathognomonic characteristics for the choice of surgical treatment in patients with genetic polyneuropathies are the nature of autonomic trophic disorders and the degree of changes in the complex types of sensitivity in feet, in particular, vibration sensitivity.

Among all allergic diseases in pediatric practice, allergic rhinitis is one of the most common pathologies of the upper respiratory tract. This review deals with the problem of modern principles for the diagnosis and treatment of allergic rhinitis in children based on the analysis of literature sources using electronic databases PubMed, Web of Science, MedLine, the Cochrane Library. Allergic rhinitis is an important medical and social problem of our time the importance of which has increased significantly in recent years. The growing number of people sensitized to pollen, the variety of symptoms and the negative impact on the quality of life of patients make pollen allergy one of the major problems in pediatrics. Despite the development of international national protocols and clinical guidelines, in many countries the control of allergic rhinitis in children remains insufficient. Therefore, it is necessary to take into account the individual characteristics of patients, pay attention to both nasal and extranasal symptoms, consider all pathognomonic diagnostic aspects, because the underdiagnosis of this allergic disease leads to inadequate therapy, complications, more severe atopy and reduced quality of children’s life in general. Recently, there is growing evidence of the need for personalized selection of the most effective therapy for allergic rhinitis in children. In-depth study of the pathogenetic role of circadian molecular clock in children with seasonal allergic rhinitis using informative molecular genetic methods may allow characterizing in detail the mechanism of regulation of allergic inflammation of the upper airway mucosa and evaluating the role of circadian genes in the development of allergic diseases, in particular allergic rhinitis. In the future, these studies may become an alternative to improve control over the course of allergy and the organization of a comprehensive monitoring system, development of new strategies for the treatment and prevention of allergic rhinitis in children., Серед всіх алергічних захворювань у педіатричній практиці алергічний риніт посідає одне з найбільш вагомих місць серед патологій верхніх дихальних шляхів. Даний огляд присвячений проблемі сучасних принципів діагностики та лікування алергічного риніту в дітей на підставі аналізу літературних джерел із використанням електронних баз даних PubMed, Web of Science, MedLine, The Cochrane Library. Алергічний риніт є важливою медико-соціальною проблемою сучасності, значення якого істотно збільшується протягом останніх років. Зростаюче число осіб, сенсибілізованих пилком, різноманітність симптомів та негативний вплив на якість життя пацієнтів роблять алергію на пилок однією з вагомих проблем педіатрії. Незважаючи на розробку міжнародних національних протоколів і клінічних рекомендацій, у багатьох країнах контроль за виявленням алергічного риніту в дітей залишається на недостатньому рівні. Тому необхідно враховувати індивідуальні особливості пацієнтів, звертати увагу як на назальні, так і на екстраназальні симптоми захворювання, враховувати всі патогномонічні діагностичні аспекти, оскільки гіподіагностика даного алергологічного захворювання призводить до неадекватної терапії, розвитку ускладнень, формування більш тяжких форм атопії та зниження якості життя в дітей загалом. Останнім часом з’являється все більше даних про необхідність персоніфікованого підбору найбільш ефективної терапії алергічного риніту в дітей. Поглиблене вивчення патогенетичної ролі циркадіанного молекулярного годинника в дітей із сезонним алергічним ринітом за допомогою інформативних молекулярно-генетичних методів може дозволити детально охарактеризувати механізм регуляції алергічного запалення слизової оболонки верхніх дихальних шляхів й оцінити роль досліджуваних циркадіанних генів у розвитку алергічних захворювань, зокрема алергічного риніту. У подальшому дані дослідження можуть стати альтернативою для покращення контролю за перебігом алергопатології та організації комплексної системи моніторингу, розробки нових стратегій лікування і профілактики алергічного риніту в дітей.

Background The scalpel sign is a radiological finding observed on sagittal magnetic resonance imaging and computed tomography myelography corresponding to an indentation in the dorsal aspect of the spinal cord resembling a surgical scalpel blade. It is said to be a pathognomonic imaging discovery linked to dorsal arachnoid webs. However, other spine-related conditions may mimic dorsal arachnoid webs on magnetic resonance imaging, such as spinal arachnoid cysts or ventral spinal cord herniation, leading to misdiagnosis. Methods A retrospective review was performed of cases involving 3 different diagnoses at our institution in the last 5 years that shared in common the characteristic focal dorsal indentation of the spinal cord. Results Of 7 cases identified, all but 1 were treated and confirmed intraoperatively. All lesions were located at the dorsal spinal cord. Magnetic resonance imaging was the study of choice for evaluation. Clinical manifestations included back pain and lower extremity numbness and weakness together with compressive myelopathy signs and urinary symptoms. Mean follow-up was 16.8 months with satisfactory postoperative results. Conclusions Isolated radiological presentation of the scalpel sign is not sufficient to distinguish between dorsal arachnoid webs, arachnoid cysts, and ventral herniation of the spine. However, awareness of its importance is relevant for accurate curative surgical planning.

Susac syndrome is a rare disease affecting mainly young women, characterized by a microangiopathy limited to the cerebral, retinal, and cochlear vessels. Although the pathophysiology of Susac syndrome is not yet fully elucidated, recent advances favour a primitive vasculitis affecting the cerebral, retinal and cochlear small vessels. Susac syndrome must be recognized in the presence of the pathognomonic clinical triad associating: 1/subacute encephalopathy with unusual headache and pseudopsychiatric features associated with diffuse white matter, grey matter nuclei and specifically corpus callosum lesions on brain MRI; 2/eye involvement that may be pauci-symptomatic, with occlusions of the branches of the central artery of the retina at fundoscopy and arterial wall hyperfluorescence on fluorescein angiography; and 3/cochleo-vestibular damage with hearing loss predominating at low frequencies on the audiogram. Relapses are frequent during an active period lasting approximately 2 years. Eventually, the disease resolves but isolated retinal arterial wall hyperfluorescence without new occlusions may recur, which should not lead to treatment intensification. First-line treatment consists of a combination of anti-aggregants and high dose corticosteroids. In refractory patients or in case of relapse, immunomodulatory molecules such as intravenous immunoglobulins or immunosuppressive drugs such as mycophenolate mofetil, cyclophosphamide or rituximab should be started. Unfortunately, sequelae-mostly hearing loss- remain frequent in these young patients.

The rate of aseptic humeral component loosening with standard-length stems is historically so low (0.3%) that presence of humeral loosening was given substantial weight in defining periprosthetic shoulder infection by the International Consensus Meeting (ICM) in 2018. This study aims to confirm that the historically low rate of humeral stem aseptic loosening is not affected by the adoption of a novel short humeral stem.Following institutional review board approval, this retrospective multi-institutional study was undertaken. A review of anatomic total shoulder arthroplasty (TSA) cases at 3 institutions provided 184 shoulders that received TSA with a grit-blasted, rectangular short humeral stem without ingrowth coating (Univers Apex; Arthrex). The average patient age was 62.1 years (range: 30-84), and 57.1% (105/184) were male. One-year radiographic follow-up was achieved in 64.7%. Patient clinical charts were reviewed for onset of newly painful shoulders, radiographic evidence of loosening, and return to the operating room for any reason. All patients with concern for clinically significant humeral loosening underwent workup for periprosthetic shoulder infection. Immediate postoperative films were reviewed to identify any differences in prosthetic canal fit. The definition of periprosthetic shoulder infection used was provided by the recent ICM shoulder guidelines.Twenty-three (12.5%) patients presented with a painful shoulder and radiographic concern for potential humeral loosening at a mean follow-up of 1.5 years (range: 1.5 months-3.4 years). Thirteen (7.1%) of these underwent revision shoulder arthroplasty where a loose stem was confirmed. All revisions underwent tissue culture, and 3 cases were consistent with probable or possible periprosthetic infection at the time of revision arthroplasty. The rate of symptomatic aseptic humeral loosening in this series was 10.9% (20/184), with 5.4% undergoing revision surgery. Patients with symptomatic aseptic humeral loosening were more likely to be male (90.5%) than those patients without symptoms (52.8%, P.001). There were no differences in canal fit between patients with concern for symptomatic loosening and those with pain-free, stable implants.In this multisurgeon, multicenter study, the early humeral loosening rate for this stem design far outpaces previously reported rates, and this study likely under-reports the true incidence of clinically significant loosening as it only contains limited short-term follow-up. The perception that humeral loosening is nearly pathognomonic for periprosthetic shoulder infection should be reconsidered for certain short humeral stem designs.

Early and accurate diagnosis of human prion diseases is a long-standing difficulty. Currently, the definitive diagnosis of human prion diseases relies on pathognomonic histological features or PrPSc detection of patients' brain tissue biopsy or autopsy samples, which is not feasible in most cases. Therefore, clinical diagnosis mainly relies on the combinations of the patient’s clinical symptoms. MRI and EEG are used to check for brain damage and detect surrogate markers such as the 14-3-3 protein in Cerebrospinal fluid (CSF), but this is often challenging. In recent years, the development of in vitro cell-free conversion techniques, such as technologies protein misfolding cyclic amplification (PMCA) and real-time quaking-induced conversion (RT-QuIC), have extensively promoted the diagnosis of human prion diseases. PMCA has high diagnostic accuracy in the blood, CSF, and urine samples of variant creutzfeldt–jakob disease (vCJD) patients. Again, RT-QuIC has high diagnostic accuracy for cerebrospinal fluid, olfactory mucosa, and skin samples of sporadic Creutzfeldt Jakob Disease (sCJD) patients. Applying these two technologies is of great significance to the early clinical diagnosis of human prion diseases and the reduction of blood-borne and iatrogenic transmission of prion.

OBJECTIVES The primary objective was to investigate the clinical presentation, hormonal dysfunction, imaging characteristics and natural history of RCCs that were managed conservatively. Secondary objective was to identify factors associated with cyst progression. METHODS A retrospective review of patients with the clinical diagnosis of RCC-identified from word search from radiology reports that were followed up from January 1999 to March 2019 was performed. The demographics, clinical data, radiological features and outcomes were reviewed and analyzed. RESULTS 105 patients were identified with a median follow up of 6 years. 68 patients (64.8%) were managed conservatively from diagnosis till last follow up while 37 patients (35.2%) underwent surgery, with 26 operated at time of diagnosis and 11 operated upon monitoring. For patients managed conservatively from diagnosis till last follow up, incidental finding was the most common presentation. 19.1% had either one or more axes of hormonal dysfunction, with hypogonadism and hypocortisolemia being the commonest ones. Imaging features were variable. 66.2% of patients had T2W hyperintensity on MRI. Pathognomonic feature of intracystic nodule was present in only 14.7% of patients. Among the 79 patients with repeated MRI imaging (68 from conservative group and 11 from surgical group), 32.9% of patients developed cyst progression while 67.1% had either static disease or regression in size of RCC. Median time to progression of cyst was 14 months. Longer median follow up duration and presence of pituitary stalk displacement at presentation were associated with cyst progression. Only one patient developed new endocrine dysfunction. CONCLUSION 2/3 of the RCCs had static disease or even regression in the size of the cyst. They rarely gave rise to additional endocrine dysfunction by adopting observant approach. Cyst progression was demonstrated in 1/3 of patients. Conservative treatment remained a reasonable treatment for patients without significant symptoms.

Dermatomyositis is associated with malignancies and is known to have systemic involvement. However, associations with bone diseases have not been well described in the current literature. This article describes the second reported case of the co-existence of dermatomyositis and Paget’s disease of bone (PDB), but this is the first report to describe such co-existence in a specific subtype of dermatomyositis—hypomyopathic dermatomyositis. Our patient was a 51 year old woman who presented with prolonged fever, myalgia, morning stiffness, and rashes pathognomonic of dermatomyositis. There was no muscle weakness clinically, although muscle enzymes were increased and electromyogram revealed myopathic changes. Further imaging showed the incidental finding of a T11 vertebral bone lesion, of which biopsy confirmed the diagnosis of PDB. Our report illustrates the diagnostic approach to bone lesions in patients with dermatomyositis and takes a closer look at the pathophysiology and management implications of the co-occurrence of these two rare diseases.

Cardiac sarcoidosis (CS) is an inflammatory disease with high morbidity and mortality, with a pathognomonic feature of non-caseating granulomatous inflammation. While 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) is a well-established modality to image inflammation and diagnose CS, there are limitations to its specificity and reproducibility. Imaging focused on the molecular processes of inflammation including the receptors and cellular microenvironments present in sarcoid granulomas provides opportunities to improve upon FDG-PET imaging for CS. This review will highlight the current limitations of FDG-PET imaging for CS while discussing emerging new nuclear imaging molecular targets for the imaging of cardiac sarcoidosis.

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.

Dementia with Lewy bodies (DLB) is epitomized by the pathognomonic manifestation of α-synuclein-laden Lewy bodies within selectively vulnerable neurons in the brain. By virtue of prion-like inheritance, the α-synuclein protein inexorably undergoes extensive conformational metamorphoses and culminate in the form of fibrillar polymorphs, instigating calamitous damage to the brain’s neuropsychological networks. This epiphenomenon is nebulous, however, by lingering uncertainty over the quasi “pathogenic” behavior of α-synuclein conformers in DLB pathobiology. Despite numerous attempts, a monolithic “α-synuclein” paradigm that is able to untangle the enigma enshrouding the clinicopathological spectrum of DLB has failed to emanate. In this article, we review conceptual frameworks of α-synuclein dependent cell-autonomous and non-autonomous mechanisms that are likely to facilitate the transneuronal spread of degeneration through the neuraxis. In particular, we describe how the progressive demise of susceptible neurons may evolve from cellular derangements perpetrated by α-synuclein misfolding and aggregation. Where pertinent, we show how these bona fide mechanisms may mutually accentuate α-synuclein-mediated neurodegeneration in the DLB brain.

The review article describes the epidemiology, clinical picture, pathogenesis, approaches to the diagnosis and treatment of chronic gastritis and functional dyspepsia. Chronic gastritis is an unreasonably common diagnosis in our clinical practice, which is diagnosed in patients with disturbing dyspeptic complaints. According to the agreement documents, chronic gastritis is primarily a morphological concept. Chronic gastritis has no pathognomonic clinical signs and should be diagnosed during the histological examination of the gastric mucosa. Functional dyspepsia is a diagnosis that reflects the presence of a certain symptom complex (pain or burning sensation in the epigastrium, a feeling of fullness or early satiety) in the absence of diseases that could explain the symptoms. Secondary dyspepsia is diagnosed in patients with organic diseases of the upper gastrointestinal tract, metabolic or systemic diseases that cause dyspeptic syndrome. In the process of examining a patient with disturbing dyspeptic complaints, it is advisable for the doctor to use the diagnosis “unspecified dyspepsia” – a preliminary diagnosis before laboratory and instrumental examination aimed at identifying the cause of the dyspeptic syndrome. Dyspepsia associated with H. pylori is diagnosed in patients with H. pylori infection. The diagnosis is revised over time and is competent if complaints have been relieved within 6 months after effective H. pylori eradication.The main drugs for the treatment of patients with dyspeptic complaints are proton pump inhibitors and prokinetics. Omeprazole with domperidone sustained release (SR) in a fixed dose combination is characterized by optimal efficacy and a good safety profile in patients with both functional and secondary dyspepsia and ensures a high level of treatment adherence.

A 66-year-old man with underlying hypertension and dyslipidemia presented with left hand tremor for one year. He also noticed difficulty in initiating movement and slowness in activities of daily living. On examination, he was noted to have mask-like facies with reduced blinking and monotonous speech. There was presence of resting pill-rolling tremor, bradykinesia, and cogwheel rigidity which was worst on the left upper limb. Gait assessment revealed difficulty in standing up, shuffling gait with reduced arm swing which was more prominent on the left side, and turning in numbers. No cerebellar signs and supranuclear palsy were present to suggest Parkinson-plus syndrome. Susceptibility weighted imaging (SWI) showed loss of the swallow tail sign on the right side [Figure 1]. The clinical presentation, supplemented by the imaging findings were concluded to be pathognomonic of idiopathic Parkinson’s disease (IPD), Hoehn & Yahr stage 1. He was started on levodopa and benserazide twice daily with improvement of symptoms.The nigrosomes are primary subregions of the substantia nigra where dopaminergic cells are lost in IPD. Within these nigrosomes, maximal cell loss occurs in nigrosome-1; the largest subgroup of nigrosomes. Normally, they appear as a SWI-hyperintense area surrounded by hypointensity within the dorsolateral substantia nigra, akin to a swallow’s tail. In one study, poor visualization of nigrosome-1 was significantly associated with higher motor asymmetry in the contralateral side (sensitivity 98.5%, specificity 93.6%, positive-predictive value 98.3%, negative-predictive value 98.3% and an accuracy of 96%) [1]. Noh et al [2] showed that abnormality involving nigrosome-1 can be detected at 3T MR imaging with an accuracy of 94.6%. Due to the difficulty in diagnosis of early stage IPD, a loss of the swallow tail sign serves as a useful imaging biomarker to supplement the clinical diagnosis, as seen in our patient.

La dermatomiositis (DM) es un tipo de miopatía inflamatoria bien definida, inmunomediada, con afectación específica del músculo esquelético y con compromiso variable de piel y otros órganos. Se caracteriza por debilidad muscular proximal, lesiones cutáneas patognomónicas de dermatomiositis como el signo de Gottron, eritema violáceo o heliotropo, y evidencia de inflamación muscular por enzimas elevadas, cambios miopáticos en electromiografía y biopsia muscular anormal. Tiene una asociación bien establecida con diferentes tipos de cáncer pero es rara su asociación con cáncer de mama. Cuando se presentan de manera concomitante, su diagnóstico requiere un estudio multidisplinario para orientar el origen paraneoplásico frente a una etiología propiamente autoinmune que requiera terapia inmunosupresora dirigida. Describimos el caso de una paciente con diagnóstico simultáneo de cáncer de mama triple negativo y criterios de dermatomiositis como manifestación paraneoplásica.

Objective This work aims to discuss the difficulties in diagnosing osteosclerotic changes in skeletonized individuals and to raise awareness of osteosclerotic dysplasias as a group of rare ancient diseases. Materials The skull of a 62-year-old male individual from the International Exchange Skull Collection, curated by the University of Coimbra, who died in 1928 presenting albuminous nephritis (Bright disease)/uraemia as the registered cause of death. Methods The skull was macroscopically and radiologically examined and bone elemental analysis was investigated. The genealogy and medical records of the individual were also searched. Results The lesions are in accordance with an osteosclerotic process possibly pointing to osteosclerosis, osteosclerotic metaphyseal dysplasia, or dysosteosclerosis, but osteoclasia with hyperphosphatasia, endosteal hyperostosis, sclerosteosis, or osteopathia striata with cranial sclerosis cannot be ruled out. Conclusions Representativeness of the skeleton is a crucial feature in diagnosing rare diseases and, to avoid a misdiagnosis, the final diagnosis should include a group of diseases rather than a definite disease. Significance Difficulties in diagnosing rare diseases are discussed and best approaches in the study osteosclerotic dysplasias in skeletonized individuals are offered in the light of current clinical knowledge. Limitations The absence of the postcranial skeleton and of pathognomonic lesions associated with osteosclerotic dysplasias limits diagnosis. Although rare diseases often have a genetic basis, specific genetic testing for the diagnosis of rare diseases in paleopathological cases are not yet available. Suggestions for further research Future genetic studies might help narrow down the diagnosis.

Although a wide variety of pathologies can occur in the limited anatomic space within and surrounding the sella turcica only a few are common. This review aims to briefly summarize pituitary and parasellar anatomy and provide a focused description of the imaging features of both common and rare pituitary pathologies. Diagnoses of imaging findings with important implications for clinical management are highlighted. MR is the primary diagnostic modality for evaluation of this anatomic region. CT supplements MR in the evaluation of pathologies involving the bony sella turcica while angiography or nuclear medicine plays a limited clinical role. Despite the wide array of pathologies, imaging and basic clinical history will frequently yield a specific diagnosis or narrow differential. In certain pathologies such as hypophysitis or pituitary hyperplasia, proper imaging interpretation may obviate the need for surgical biopsy or resection. The two key elements to diagnosis in the pituitary region are localization of the abnormality and recognition of characteristic imaging features for different pathologies. Localization is particularly important in separating parasellar masses such as meningiomas, skull base tumors, carotid aneurysms, craniopharyngiomas, or sphenoid sinus tumors from pituitary masses. Imaging features are often variable and in some cases such as craniopharyngioma or epidermoid, can be almost pathognomonic. In cases of neoplastic pathology, imaging both provides diagnostic information and guides planning of surgical biopsy or resection. In most cases, biopsy or resection is performed though a trans-sphenoidal endoscopic route, and identifying invasion or the suprasellar cistern, skull base, or cavernous sinuses is critical.

Various systemic diseases of benign or malignant etiologies can clinically manifest in the breast. Some imaging findings of breast lesions can be pathognomonic for a given condition, while others are non-specific, mimicking primary breast carcinoma and requiring tissue biopsy for definitive diagnosis. In addition to obtaining a detailed clinical history, radiologists should be familiar with the diverse clinical and imaging characteristics of these conditions to help exclude primary breast cancer and avoid unnecessary interventions. This review aims to discuss the clinical presentations, imaging features, pathologic findings, and management of systemic conditions that may affect the breast.

We herein describe a typical episode of bacillary hemoglobinuria in buffalloes, triggered by liver fluke invasion proved by pathognomonic macro and micro lesions of fasciolosis in the biliary ducts and the nephrosis and hepatic focal necrosis characterizing the toxic-infectious process caused by Clostridium haemolyticum. This report is quite similar to another one described by AHOURAI et al. (1990) in cattle following liver fluke invasion and C. haemolyticum isolation and we both agree with the fact that foci of ischemic of toxic necrosis serve as a focus in which clostridial spores might vegetate and cause the disease by producing toxins. Vaccination with bacterin or toxoids is the most effective measure for preventing these histotoxic clostridial diseases since the endospores of the microorganism persist in the environment. Also, as the process is triggered by fluke liver migration, the prevention should cover the control of this trematode as well. Although the pathogenicity of bacillary hemoglobinuria is well known, there are only a few reports currently available, and to our knowledge this is the first case of the disease described in buffaloes.

Cantu syndrome (CS) is an extremely rare autosomal dominant hereditary disease characterized by congenital hypertrichosis, distinct coarse facial features, cardiac defects, and other abnormalities in the skeletal and neurological systems. At present, cases with pathognomonic clinical manifestations are increasingly confirmed by genetic analysis. Two causative genes for CS are the well-known ABCC9 and the more rarely reported KCNJ8. Here, we report three Vietnamese children with CS, confirmed through genetic testing, presenting de novo ABCC9 mutations. The patients shared some common clinical manifestations, including congenital hypertrichosis, distinctive facial features, and a history of polyhydramnios during pregnancy. Concerning the various cardiac and neurological problems in the lifetime of patients with CS, an accurate diagnosis and appropriate management, especially genetic counseling, should be clinically applied in CS. Thus, our findings might modestly contribute to the global CS data, providing practical insights into CS manifestations.

The authors describe identical twin sisters with similar symptoms, fundus findings, and ophthalmic testing consistent with retinitis punctata albescens (RPA). The pathognomonic white retinal flecks, extensive midperipheral retinal pigment epithelium atrophy, and pigmentary changes demonstrate overlapping phenotypic properties of RPA and other inherited retinal degenerative diseases. Genetic testing confirmed two mutations of the RLBP1 gene: one pathogenic for RPA, and the other a variant of uncertain significance previously reported as a novel RPA mutation in the literature. This report highlights identical phenotypic findings and genetic mutations in twin sisters aiding in further classification of pathogenic mutations associated with RPA. [ Ophthalmic Surg Lasers Imaging Retina . 2021;52:450–453.]

Background Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) a cofactor for adipose triglyceride lipase (ATGL) resulting in intracellular accumulation of triacylglycerol (TG) in numerous body tissues. It is an autosomal recessive disorder mutation in ABHD5 that causes the partial or total loss of ATGL activation, leading to the accumulation of TG inside lipid droplets. We aim to assess the clinical and biochemical manifestations, diagnosis, follow-up and genotype–phenotype correlations in six Pakistani pediatric patients with CDS. Results Six male patients with mean age 15 months (9–24 months) diagnosed as CDS on the basis of non-bullous ichthyosiform erythroderma, hepatomegaly and Jordans bodies in peripheral smear. We identified two novel mutations in ABHD5 gene (c.338G > T and c.730_731insA). These mutations have a pathogenic and damaging influence on the ABHD5 protein structure and function. During the 2 year clinical follow-up one patient died of severe chest infection; he had severe phenotype. There is no genotype–phenotype correlation in CDS. Therapy with low fat diet, MCT oil, Vit E and ursodeoxycholic acid has promising results in CDS. Conclusion Non-bullous ichthyosiform erythroderma, steatohepatitis and Jordan’s anomaly are consistent findings in all cases of CDS. It is suggested that an accurate diagnosis of CDS should be based on combination of clinical features and pathognomonic ABHD5 mutations. More studies should be carried out to identify population-specific genetic mutations for the rapid and cost-effective diagnosis of CDS.

The COVID-19 pandemic has already reaped thousands of lives, although many scientific studies already showed the possibility of this scenario. Currently, further attention is provided to patients depicting comorbidities such as respiratory or immunocompromised diseases, hypertension, and diabetes, as these individuals show a worse prognosis. Cell therapies using stem cells and/or defense cells, combined or not with traditional treatment, could be an outstanding strategy for COVID-19 management since these treatments can act by modulating the immune system, reducing proliferation, and favoring the complete elimination of the virus. In this review, we highlight the main molecular characteristics of this novel coronavirus, as well as the main pathognomonic signs of COVID-19. Furthermore, possible cell therapies are pointed out to show alternative treatments against COVID-19 and its sequels.

Abdominal wall pseudohernia is an unusual complication following herpes zoster. However, it can be confused with a true hernia and should be differentiated from other causes of pseudohernia. We review the published literature to describe the evidence around presentation, investigation, management, and prognosis of this condition. A MEDLINE search was performed in October 2020. The references of identified articles were searched. Studies were included if full text was available and if one case or more of abdominal wall paralysis caused by herpes zoster was described. We identified 72 articles describing 83 cases. The following information was extracted: age, sex, timing of rash and paresis, investigations and timing and completeness of recovery. This presentation occurred more in the elderly (average age of 66.9) and in males (72.6%). The most commonly involved level was T11. In most cases (76.2%), abdominal wall paralysis occurred after the cutaneous manifestations, after an average of 27.6 days. Six patients (7.14%) presented with concurrent cutaneous symptoms and pseudohernia. Seven patients (8.33%) presented with a pseudohernia first. Electromyography was performed in 35 cases (41.7%) and 31 had an abnormal result. Multiple resonance imaging was performed in 13 cases (15.5%): 5 showed an abnormality. Forty-one patients had a complete recovery at an average of 4.29 months. Sixteen patients (19.0%) only had partial recovery. Abdominal wall pseudohernia is an unusual sequel of herpes zoster infection with pathognomonic findings. Prognosis is good with complete or partial recovery for most patients.

Campak merupakan penyebab penyakit eksantema dengan karekteristik demam, batuk, pilek, konjungtivitis, ruam konfluens makulopapula eritematosa,dan enantema yang patognomonik dan campak menjadi salah satu penyebab utama kematian pada anak tahun 2007-2015. Tujuan penelitian ini untuk Hubungan tingkat pengetahuan dan sikap ibu terhadap status imunisasi pada balita pasien campak di Rumah Sakit Bakti Timah Pangkalpinang.Metode penelitian deskripsi korelasi. Populasi penelitian ini Ibu/ Orang Tua yang memiliki balita umur 1-4 tahun dan terkena penyakit campak di Rumah Sakit Bakti Timah Pangkalpinang. Sampel penelitian ini sebanyak 42 responden berdasarkan data pasien balita yang terkena penyakit campak di Rumah Sakit Bakti Timah Pangkalpinang. Sampel kontrol diambil Sampling Non Probabilitas. Data dianalisis dengan analisis univariat dan bivariat menggunakan uji statistik Chi-square dengan tingkat kemaknaan 0,05.Hasil penelitian variabel dengan status imunisasi pada balita pasien campak ditemukan adanya hubungan. Hasil penelitian menunjukkan bahwa variabel pengetahuan (POR = 7,741), Sikap Ibu (POR = 6600). Disarankan bagi Rumah Sakit dapat memberikan konseling edukasi kepada orang tua balita bahwa pentingya imunisasi campak dan bahaya penyakit campak serta memberikan peran serta petugas kesehatan dirumah sakit untuk komunikasi yang baik pada pasien dan keluarga pasien penderita campak.

We report the case of a 45-year-old woman with a slow-growing palpable nodule on the left breast, confirmed as a well-defined opacity on mammography, corresponding to a 5 cm hyperechoic lesion on ultrasound, and considered, on the basis of clinical examination and radiological findings, to be consistent with a lipoma. One year later, the patient represented with an enlarged left breast mass and underwent further imaging investigation with subsequent diagnosis of primary breast angiosarcoma obtained via a Vacuum-Assisted Breast Biopsy. The patient developed metastatic disease and succumbed to the disease one year after definitive diagnosis. Primary breast angiosarcoma is a rare malignant vascular neoplasia, characterized by aggressive patterns, poor prognosis, and absence of pathognomonic radiological features. Currently, there are no evidence-based guidelines regarding treatment, even though wide surgical resection followed by chemo- and radiotherapy appears to improve survival.

Objective 18F-fluorodeoxyglucose PET/CT (FDG-PET/CT) is widely used in patients with large vessel vasculitis. The benefits of FDG-PET/CT in PAN has only ever been assessed in three case reports. Our aim was to describe FDG-PET/CT findings in 10 patients with newly diagnosed PAN. Methods This was a retrospective study of patients with PAN who underwent FDG-PET/CT at diagnosis between 2017 and 2020. The FDG-PET/CT data were analysed retrospectively. Results Ten patients were included: nine men and one woman with a median age of 67 years (range 43–78). PAN was diagnosed according to ACR criteria in nine patients and histologically in one. All patients had high CRP levels (median 223 mg/l). The main FDG-PET/CT abnormality was increased tracer uptake in the muscles, particularly in the connective tissue (perimysium, epimysium) (n = 7), and in linear (n = 5) or focal (n = 2) patterns. Increased FDG uptake in large-diameter vessels was observed in four patients, in the humeral (n = 4), femoral (n = 1) and common interosseous arteries (n = 1). Nine patients had bone marrow FDG uptake and six had splenic FDG uptake. Three had synovitis and three had lymph node uptake. One patient had subcutaneous FDG uptake with a ‘leopard skin’ appearance. Conclusions FDG-PET/CT seems to be a useful non-invasive imaging technique for diagnosing PAN, particularly in patients with non-specific systemic features. Tracer uptake in muscular connective tissue seems to be a recurrent sign in patients with PAN and may be pathognomonic.

Cowden syndrome (CS) is a rare, autosomal dominant, multisystem disease related to the mutation of phosphatase and tensin homolog (PTEN) tumor suppressor gene. It is characterized by the occurrence of multiple hamartomas and mucocutaneous lesions and is associated with a high risk of malignancies. Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, is a rare hamartomatous lesion of the cerebellar cortex with a unique “tiger stripe” appearance on magnetic resonance imaging (MRI). Since 1991, LDD has been considered pathognomonic and part of CS. In addition, as almost all adult onset LDD cases were associated with PTEN gene mutations, LDD and CS are both included in PTEN hamartoma tumor syndrome (PHTS). In this article, we report a 48-year-old female patient, who presented with a right cerebellar lesion resulting in hydrocephalus. The histology of the cerebellar lesion confirmed the diagnosis of LDD, and her clinical history is highly suggestive of CS. Due to the high incidence of multisystemic malignancies and other diseases, it is important for clinicians to be aware of the association between LDD and CS. Affected patients should be evaluated carefully and screened for cancers accordingly, so as to allow early diagnosis and treatment.

Background: The Miller Forensic Assessment of Symptoms Test (M-FAST; Miller, 2001) is a widely used but controversial instrument promulgated to measure malingering. Its use is encouraged by publications which are methodologically flawed such as the recent meta-analysis by Detullio et al. (2019). In this study, we examine which of M-FAST’s 25 items are most frequently endorsed by veterans with posttraumatic stress disorder (PTSD). Method: Using tabular data published by Wolf’s team in 2020, we identified from a clinical perspective, the 7 M-FAST items endorsed by the highest proportions of 121 US combat veterans with a probable current diagnosis of PTSD. Since the M-FAST diagnostic cutoff is 6 or more points and each endorsed item counts as one point, the 7 most frequently endorsed M-FAST items provide a clinical profile, via their content, as to which items are most frequently involved in misdiagnosing veterans as malingerers. Results and Discussion: Item 2 (“feeling depressed most of the time”) was endorsed by 67.8%, Item 23 (“feeling that I don’t really matter”) by 56.2%, Item 20 (formication) by 28.9%, and Item 17 (phantosmia, i.e., “false sensation of an odor”) by 24.0%. Formication and phantosmia are legitimate neuropsychological symptoms that may occur with whiplash injuries and head trauma or exposure to toxic chemicals in combat. Item 21 (“at times hearing music coming from nowhere”) endorsed by 22.3% may describe spontaneous intrapsychic activity of musically inclined persons. Item 14 (“Sometimes it seems as if someone controls my symptoms, turning them on and off”) endorsed by 20.7% may reflect the unpredictable fluctuation of frequency and severity of PTSD symptoms. Item 1 (“restlessness while seated”) endorsed by 19.8% is scored in the M-FAST as a discrepancy between the patient reporting that he “often” feels restless, and the examiner’s observation that no such nonverbal behavior during the brief M-FAST interview was noted. Restlessness is a post-concussive symptom that is not necessarily always present, such as during the M-FAST interview. Conclusions: All 7 most frequently endorsed items by combat veterans are neither exclusive to malingerers nor pathognomonic of malingering. They form a pattern of legitimate medical symptoms fallaciously scored and interpreted in the M-FAST’s system as indicators of malingering.

A pathognomonic macular ripple sign has been reported with scanning laser ophthalmoscopy images in patients with foveal hypoplasia, though the optical basis of this sign is presently unknown. Here we present a case series of seven individuals with foveal hypoplasia (based on spectral domain optical coherence tomography). Each patient underwent infrared scanning laser ophthalmoscopy retinal imaging in both eyes, acquired with and without a polarization filter and assessment for a ripple-like effect in the fovea. On imaging, macular ripples were present in all eyes with foveal hypoplasia when using a polarization filter, but not when imaged without the filter. We conclude that the macular ripple sign is an imaging artifact attributable to the unique pattern of phase retardation of the Henle fiber layer in the setting of foveal hypoplasia. By utilizing a polarization filter with retinal photography, this feature can be exploited to promptly identify foveal hypoplasia in settings where OCT is not possible due to nystagmus.

Extracorporeal membrane oxygenation (ECMO) plays an important role as a life-saving tool for patients with therapy-refractory cardio-respiratory failure. Especially, for rare and infrequent indications, scientific data is scarce. The conducted paper focuses primarily on our institutional experience with a 19-year-old patient suffering an acute chest syndrome, a pathognomonic pulmonary condition presented by patients with sickle cell disease. After implementation of awake ECMO therapy, the patient was successfully weaned off support and discharged home 22 days after initiation of the extracorporeal circulation. In addition to limited data and current literature, further and larger data sets are necessary to determine the outcome after ECMO therapy for this rare indication.

The detection of muriform cells in direct mycological or anatomopathological examination is considered pathognomonic for chromoblastomycosis. The morphological aspect that these fungal structures acquire were called “Borelli spiders”, when associated with hyphae. Reports of this association have been described for decades, initially related to more pathogenic agents of this mycosis. More recent studies have shown aspects related to the host's immunity that participate in this process, as well as an association with a worse disease prognosis. The present study discloses the findings of complementary examinations with the presence of “Borelli’s spiders” in a patient diagnosed with chromoblastomycosis.

Mucus cysts are very common in oral cavity. All ages groups are equally effected, it’s may be seen in child and also old age. Most frequently is seen in the lower lip. Most probable cause is trauma or habit of lip biting. Diagnosis is mainly established clinically due to its pathognomonic presentation. In allopathic point of view is surgical excision of the lesion usually treatment of choice. Case summary: This is a case the patient was suffering from oral mucosal cyst last one month having a small, painless, movable, and soft, in lower lip. The patients were prescribed indicated constitutional Homoeopathic medicines. Individualised homoeopathic medicine Nitric Acid was prescribed in centesimal potency which showed a positive role in the treatment of lower lip mucous cyst. Within two and half months inner side of lower lip mucous cyst was annihilated.

Background Testicular torsion is a urological emergency and needs urgent intervention to prevent testicular loss and impaired future fertility. It is commonly seen in the neonatal and adolescent age groups. Testicular torsion can also present outside these common age groups with uncommon symptoms and signs. We report case series of patients managed at Lily Hospitals Limited, Warri, Delta State, Nigeria with atypical presentation of testicular torsion. Case Presentation The first patient was a 35-year-old male that presented with recurrent right testicular pain of 1-year duration, described as dull aching with no constitutional symptoms, physical examination findings were not pathognomonic of testicular torsion, he had scrotal exploration with right orchidectomy and left orchidopexy. The second patient was a 39-year-old male who presented with recurrent right testicular pain of 4-days duration, described as dull aching with no constitutional symptoms. Physical examination findings were not classical for testicular torsion, he had scrotal exploration with bilateral orchidopexy. Conclusion Testicular torsion although common in neonatal and adolescent age groups can also present outside these age groups with uncommon symptoms and signs, a high index of suspicion is thus invaluable in any patient presenting with testicular pain despite the age and severity to avoid missing the diagnosis as this can lead to testicular loss.

An adult man presented with a 5-month history of anterior right shoulder pain. He denied previous trauma or night pain. On the otherwise normal physical examination, pain was elicited in maximum abduction and external rotation. Radiographs were negative. The primary imaging findings were bone marrow oedema of the inferomedial proximal metaphysis of the humerus on MRI and cortical demineralisation on CT located posteromedially. A superficial elevation was also observed around the lesion. A provisional diagnosis of an osteoid osteoma was made based on these imaging findings. Arthroscopic excision of the lesion was performed, and histopathological examination confirmed the diagnosis of an osteoid osteoma. Diagnosis of intra-articular osteoid osteomas may be challenging due to atypical symptomatology and lack of pathognomonic imaging findings. Arthroscopic excision of such lesions in the shoulder is a safe and reliable option and should be considered as the treatment of choice.

Objective Maturity-onset diabetes of the young (MODY) type 5 is caused by an autosomal dominant mutation in the HNF1B gene. Our objective was to report a case of a young girl with bicornuate uterus and recurrent renal stones with diabetes mellitus (DM) without a family history that was diagnosed to be MODY 5. Case Report A 12-year-old girl presented with recurrent renal stones that were managed with lithotripsy and double-J stenting at various time points. At the age of 14 years, she was found to have a bicornuate uterus with an absent cervix and vagina. She was diagnosed with DM at the age of 16 years without a preceding history of osmotic symptoms or steatorrhea. Although there was no family history of young-onset diabetes, given her long-standing history of mullerian abnormalities, renal cysts, and pancreatic hypotrophy, she was evaluated for MODY. Using the next-generation sequencing, she was found to be positive for a reported HNF1B gene pathogenic mutation c.494G>A (p.Arg165His), confirming a diagnosis of MODY 5. Discussion There is a significant overlap in clinical criteria for type 2 DM and MODY in the Asian Indian population. The HNF1B gene mutation is difficult to diagnose as none of the clinical manifestations are pathognomonic and many lack a family history of DM. Diagnostic algorithms with specific clinical and biochemical criteria along with pancreatic imaging can help in case detection and direct toward particular genetic mutation analysis. Conclusion We suggest that genetic testing be offered to patients with otherwise unexplained DM and such genitourinary anomalies.

Despite the modest positive trends in the epidemic situation for tuberculosis, the incidence of extrapulmonary tuberculosis is not consistent. The relevance of urogenital tuberculosis remains high, as well as its social significance. Tuberculosis of the kidneys and urinary tract is often diagnosed late, when drug therapy is not enough and surgical treatment is required. A total of 78 national and foreign publications dedicated to surgical treatment of patients with urogenital tuberculosis were analyzed. Various surgical techniques for renal and bladder tuberculosis are described with a comparison of their advantages and disadvantages. Tuberculosis of the urinary system, like any infectious disease, can and must be cured with drug therapy. Unfortunately, there are complicating subjective (low alertness of doctors regarding tuberculosis, low adherence to national and international guidelines) and objective (absence of pathognomonic symptoms of urogenital tuberculosis, which results in late diagnosis, increased drug resistance of the pathogen, high comorbidity) factors. The advancements in surgical techniques and modern drugs for neoadjuvant therapy give patients the opportunity to receive minimally invasive treatment that saves not only life, but also provides them acceptable quality of life.

Bile pulmonary embolism (BPE) is a rare type of non-thrombotic pulmonary embolism (NTPE). For bile emboli to pass through the bloodstream to the lungs, there must be a connection created between the biliary and the venous vessels. This article reports a fatal BPE in a 12-year-old child who died 14 days following an abdominal firearm injury. The right lobe of the liver had a yellowish-green stained lacerated track along with bile collection. Both lungs were congested with peripheral dark areas in all lobes. Microscopically, many interstitial pulmonary arterioles were occluded by bile emboli along with the presence of hemorrhagic infarcts. Other than the present case, only 21 cases of BPE were published in the literature until the present day. The history of hepatic trauma and/or hepatobiliary disease in association with pulmonary manifestations points to BPE as a possible diagnosis. However, visualization of bile emboli within the pulmonary vessels is pathognomonic for BPE.

Infection of HIV-infected with a new coronavirus infection, due to its high contagiousness, is inevitably growing all over the world. According to estimates of Chinese scientists, their number is currently more than 500 thousand people. Considering that COVID-19 leads to suppression of immunity and the emergence of opportunistic infections in HIV-negative patients, the activation of secondary diseases in patients with HIV is natural. In view of this, the study of the features of the X-ray morphological picture of inflammatory changes in the lungs according to MSCT data in patients with COVID-19/HIV became the goal of this study. 13 patients who underwent treatment at the Surgut Regional Clinical Hospital during the period from March to July 2020 underwent MSCT of the chest organs upon admission, before discharge, as well as in case of deterioration or lack of effect from the therapy — every 3 days. The detection of pathognomonic CT signs of COVID-19 in the lungs in patients with HIV (the nature of the lesion, the stage of the disease, the severity of the inflammatory process) was carried out in parallel with the diagnosis of opportunistic infections. During the examination, atypical clinical and X-ray morphological signs of the course of COVID-19/HIV coinfection were identified. In HIV-infected people, COVID-19 proceeds more easily and in disguise, while opportunistic infections both in clinical and radiological manifestations have priority signs. They are the reasons for the aggravation of the course of the disease, as well as the development of complications in these patients.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a pandemic infection that emerged in December 2019 leading to an outbreak worldwide. We aimed to investigate the hematological parameters and coagulation profiles specifically for the referral of coronavirus disease 2019 (COVID-19) patients to intensive care unit (ICU) due to the severity of illness to determine a pathognomonic association of infection severity and the hematological markers. The pathognomonic markers could assist physicians in better management of the infection to reduce mortality and morbidity. Thirty patients infected with COVID-19 who were receiving treatment during November and October 2020, in the ICU at Asir Central Hospital, Asir Region, Saudi Arabia, were recruited. The age of patients ranged between 30 and 90 years old. COVID-19 patients in the ICU displayed a statistical reduction in red blood cells (RBCs), hemoglobin (HBG), and hematocrit (HCT). Leukocytosis, neutrophilia, thrombocytopenia, and lymphocytopenia were significant in ICU COVID-19 patients.�Hematological parameters and coagulation profiles may be used as signs to predict the severity of the coronavirus infection. COVID-19 cases in the ICU showed a dramatic change in hematological parameters and coagulation profiles, indicating that the virus may interfere with hemoglobin, platelet, and immune cell functions through either inhibition or stimulation, leading to severe complications.

Background Disc hemorrhage (DH) is an important factor often associated with the development and especially progression of glaucoma. In contrast, some studies have reported peripapillary retinoschisis in glaucoma, but it is not recognized as a pathognomonic finding, and opinions on the clinical significance of retinoschisis are not consistent. Here,we present the case of DH following peripapillary retinoschisis in the same area within the same glaucomatous eye. Case presentation A 70-year-old man with high intraocular pressure (IOP) was referred to the glaucoma clinic. At the time of the baseline study, the IOP was 30mmHg, and peripapillary retinoschisis was discovered at 7 o’clock on the periphery of the optic nerve with swept-source optical coherence tomography. Accompanying retinal nerve fiber layer defect were manifest in the inferotemporal part with red-free fundus photography. Under the impression of open-angle glaucoma, we prescribe latanoprost ophthalmic solution. Eight months later, the IOP was 17mmHg, and the peripapillary retinoschisis had disappeared. DH was observed in the inferotemporal area in the same direction as that of the previous peripapillary retinoschisis. Conclusions The case presented here are the first to report on the relationship between peripapillary retinoschisis and DH. Hopefully future studies will reveal the actual connection between peripapillary retinoschisis and DH.

Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterized by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances. Recent advances in molecular diagnosis and therapeutic options are complemented by the increasing recognition of new multimodal imaging biomarkers that may predict genotype and disease progression. Unique non-invasive imaging features of STDG1 are useful for gene variant interpretation and may even provide insight into the underlying molecular pathophysiology. In addition, pathognomonic imaging features of STGD1 have been used to train neural networks to improve time efficiency in lesion segmentation and disease progression measurements. This review will discuss the role of key imaging modalities, correlate imaging signs across varied STGD1 presentations, and illustrate the use of multimodal imaging as an outcome measure in determining the efficacy of emerging STGD1 specific therapies. This article is protected by copyright. All rights reserved.