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Sickle cell disease nephropathy (SCDN), a common sickle cell disease (SCD) complication, is strongly associated with mortality. Polygenic risk scores calculated from recent trans-ethnic meta-analyses of urinary albumin-to-creatinine ratio (UACR) and estimated glomerular filtration rate (eGFR) trended toward association with proteinuria and eGFR in SCD but the model fit was poor (R2

Posterior reversible encephalopathy syndrome (PRES) is a variable etiology clinical syndrome with similar neuroimaging results and clinical symptoms. PRES can develop in both adults and children and is characterized by headaches, disorders of consciousness, seizures and especially focal visual disturbances, often associated with hypertensive state. In most cases, symptoms resolve without neurological consequences. The treatment strategy concerns early diagnosis and general measures to correct the underlying cause of PRES. Here, we report a case of PRES that occurs in a 6-year-old child with nephrotic syndrome.

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition characterized by headache, nausea, vomiting, seizures, and visual disturbances with typical radiological features of symmetrical edema mostly involving the white matter in the occipital regions (1–2). PRES can develop in association with a wide array of clinical conditions, including systemic infections, hypertension, organ transplantation, and immunosuppression (especially with calcineurin inhibitors). Children who are on prolonged steroid therapy or on calcineurin inhibitor therapy in nephrotic syndrome (NS) are at risk of developing PRES (3–4). A 6-year-old Moroccan-boy, followed in his country for nephrotic syndrome, was hospitalized in our unit of pediatrics for severe generalized body edema, proteinuria (18600 mg/day), low serum albumin (0.9 g/L), high serum cholesterol (468 mg/dl). His arterial blood pressure value was 122/77 mmHg. We treated him with steroid intravenous, albumin supplementations and we continued cyclosporine. While his general conditions were improving, on the seventh day of hospitalization he developed headache, vomiting, dizziness, temporal blindness. A non-contrast computerized tomography was performed and it showed symmetrical hypodensities in parieto-occipital regions. His blood pressure was 132/71 mmHg. Then he developed two episodes of generalized tonic clonic convulsion, followed by unconsciousness. Magnetic resonance imaging (MRI) showed hyperintense signal in the parieto-occipital regions, and revealed bilateral cortical and subcortical white matter edema in parieto-occipital lobes The child was treated with antihypertensive medications, diuretic, steroids and immunosuppressant (cyclosporine A), thereafter he got no seizure and regained full consciousness and vision. His blood pressure was kept at normal range and urinary protein excretion gradually decreased. MRI performed two weeks later revealed no abnormality of the brain, which is a usual phenomenon in case of PRES The pathophysiology of PRES remains controversial, and two main hypotheses have been suggested; impaired cerebral autoregulation resulting in increased cerebral blood flow, and endothelial dysfunction with cerebral hypoperfusion (5–6). PRES must be managed carefully and its pathogenic factors should be suspected and recognized as soon as possible in order to properly treat the patient. In hypertension-related and drug-induced PRES, in fact, effective management includes prompt withdraw of offending agent, aggressive control of blood pressure, timely anti-convulsant therapy. In our case, hypertension was undoubtedly an important cause, but we were uncertain whether cyclosporine also played a pathogenic role. PRES should be always considered in the differential diagnosis of a child with idiopathic nephrotic syndrome, headache and visual disturbance.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating illness, characterize-ed by a monophasic course frequently associated with infections or previous immunization. Regarding pathogenesis, encephalomyelitis is associated with some immunological mechanisms. Post-infection or post-vaccination inflammatory reactions in the perivenular region in the central nervous system (CNS) may be explained by a molecular mimicry mechanism. An antecedent infection was identified in 72–77% of paediatric patients. We present a case of a 5 year-old girl in follow up for autoimmune thrombocytopenia (AT) and autoimmune haemolytic anaemia (AHA) in steroid treatment, with history of left hemiparesis, language delay, from as a consequence of perinatal suffering, who has developed ADEM. This patient presented with progressive weakness of limbs, neck pain associated with fever from one day. It was acute in onset and gradually progressive. She became quickly hypotonic and hyporesponsive and had reduced level of consciousness. Within 12 hours of admission, the patient developed sphincter incontinence and dysphagia. After exclusion of papilloedema, lumbar puncture has been performed. An urgent MRI was performed, which showed multiple subcortical lesions of varying size showing hyperintensities in TR at the bridge and in T2 at the medulla . Cerebrospinal fluid (CSF) study showed cell count of 40 cells/mm3 , protein 58 mg/dL, glucose 54 mg/dL. No oligoclonal bands were present in CSF. Blood and CSF cultures were negative like other infectiological analyzes. Also CSF-PCR for the presence of bacteria and virus was negative. Her autoimmune profile with antinuclear antibody was also negative. The clinical features and the MRI findings were suggestive of ADEM. Partial quadriplegia, and reduction of reflexes, as seen in the myelitic form of ADEM, were present. She had developed ADEM while on the maintenance dose of prednisolone. After diagnosis, intravenous methylprednisolone was given at 30 mg/kg daily for 5 days. After 48 hours there was a significant improvement in the patient‘s clinical condition. A regimen of oral steroid was advised after intravenous therapy . The patient responded well to steroid therapy. No residual lesion was found on follow-up. AT and AHA are relatively uncommone. There are studies postulating the possibility of a combination of several autoimmune diseases. Very few cases have been found with this rare association in the literature. Follow-up of these patients is essential for detecting the development of other autoimmune disease in such cases.

Congenital abnormalities of the systemic venous return (SVR) are rare, most often asymptomatic and discovered occasionally in the course of imaging studies. The persistence of the left superior vena cava (PLSVC) is the most common thoracic venous anomaly. The prevalence is 0.1%–0.3% in the general population, more common in individuals with congenital heart anomalies (CHA). The PLSVC with the absence of the right superior vena cava (ARSVC) is extremely rare, with a prevalence of 0.09% to 0.13% in patients with other CHA. The PLSVC is given by the persistence of the Marshall vein, counterpart of the superior vena cava in the early stages of embryonic development, which usually regresses during intrauterine development. The PLSVC determines venous return into the right atrium through the coronary sinus (CS), consequently dilated. Patients with abnormal SVR are at greater risk of developing arrhythmias due to possible aberrations in the cardiac conduction tissue in the early stages of development. In fact, the conduction tissue originates from two sites close to the superior vena cava ancestors. Furthermore, arrhythmias could result from structural abnormalities, such as right atrial dilation or CS dilation. We report the clinical case of M.C., female, premature of 33 weeks, birth weight 2450 g, APGAR score 8–9, silent prenatal history. On the second day of life, an echocardiography was performed, since a systolic murmur 1/6 in mesocardium was noticed. In addition to a restrictive interventricular muscle defect, the examination showed the PLSVC with a significant increase of the CS (5 mm), draining into the right atrium, and the ARSVC. During hospitalisation M.C. was subjected to electrocardiogram, oxygen saturation monitoring and heart rate, resulted in the normal ranges. M.C. was discharged on the 12th day of life in good general conditions with a cardiology follow up planned at 1 year of age.

Situs inversus viscerum is a rare congenital anomaly (incidence 1/15–20 000) in which organs are mirrored from their normal positions. It is called situs inversus viscerum totalis when there is a total transposition of abdominal and thoracic viscera. Incomplete situs inversus viscerum involves transposition only of abdominal organs and is more frequently associated with congenital cardiac defects (90%–95% vs 5%–10% in situs inversus totalis). About 25% of individuals with situs inversus have an underlying condition known as Kartagener Syndrome. As a result of benign pathology, patients with situs inversus viscerum can live normal healthy lives. Situs viscerum inversus can be associated with defects in various organ systems (respiratory, GI tract, genitourinary). In literature there’s evidence of cases of situs inversus associated with renal malformations (dysplasia, hypoplasia, ectopia, polycystic kidney, horseshoe kidney). Association with renal agenesis is rare. We report the case of S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. Normal fetal US. In the third day of life, heart sounds better heard on the right side of the chest. Cardiac US: situs inversus viscerum, dextrocardia, subaortic stenosis, restrictive ventricular septal defect, atrial septal defect ostium secundum. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. In the 20th day of life, right reducible inguinal hernia. The little patient underwent cystography, negative for vesicoureteral reflux, and static renal scintigraphy with evidence of absent activity in right renal space. Renal function, cerebral US, audiologial assessment and karyotype were normal. No respiratory distress reported. Mucociliary clearance test and a regular follow-up are scheduled.

Case report L.F., 11 year old boy with neurofibromatosis type 1 (NF1), was admitted to our Clinic for headache. During hospitalisation were performed: 24 hour blood pressure monitor documenting isolated systolic hypertension grade I, Doppler ultrasound of renal vessels which diagnosis of the left renal artery severe stenosis (confirmed at angiography) and MRI brain highlighting extra-axial lesion (1.2 cm) in posterior cranial fossa (PCF). Nifedipine (10 mg/day) therapy was started, and subsequently intravascular stent was placed in renal artery. Neuroradiological control (MRI) showed increased in brain lesion (>2 cm). Surgical removal and histological evaluation allowed diagnosis of hemangioblastoma, with diagnostic suspicion for Von Hipple Lindau syndrome (VHL), confirmed by genetic analysis. Conclusions NF1 is an autosomal dominant, multisystemic and progressive disease, with multiple complications. These include high blood pressure, described in 6% of patients, mostly caused by renal artery stenosis, pheochromocytoma or coarctation of aorta. The hemangioblastoma, however, is the most characteristic lesion of VHL disease. In literature it has been reported association between VHL-NF1: both diseases are part of neurocutaneous syndromes and it is possible to hypothesise a common dysplastic origin.

Unilateral renal agenesis (incidence of 1/500–1000 newborns), can be isolated or associated with other urological/extra-urological abnormalities. Unilateral renal agenesis (URA) may be suspected after a renal US and confirmed by static renal scintigraphy. We describe 3 cases among the 1299 children born in our Centre in the first half of 2015. S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. In the third day of life a diagnosis of situs inversus viscerum totalis, subaortic stenosis, restrictive ventricular septal defect and atrial septal defect ostium secundum has been made. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. The patient underwent cystography, negative for reflux, and static renal scintigraphy which confirmed diagnosis. Renal function, cerebral US, audiologial assessment and karyotype were normal. M., born at 27,5 weeks by C-section, APGAR 6/8, weight 1240 g. Mother with gestational diabetes. In the first day of life, patent ductus arteriosus and patent foramen ovale were detected. After 2 months US before discharge revealed right renal agenesis. Cystography was negative and renal scintigraphy confirmed diagnosis. B., born at 34,6 weeks by eutocic delivery. APGAR 7/8, weight 2240 g. As an imperforate anus was detected, the patient underwent renal US which revealed pyelectasis and empty left renal space. Diagnostic management was incomplete because the patient was transported to another Health Care Centre.

Background Neurofibromatosis Type 1 (NF1), a autosomal dominant disorder, which mainly involves Skin and nervous system: 15% of children with NF1 develops optic pathway gliomas (OPG), typically Astrocytomas pilocytic low grade, usually in the first decade of life. In one third of cases OPG occur with proptosis, visual impairment, early puberty or other disorders of hypothalamus-pituitary axis. According to current guidelines, children with NF1 should be screened frequently for visual examination and in case of visual impairment, brain MRI with the orbits analysis should performed. The current SIOP-LGG 2004 recommendations, in all cases of no-symptomatic, no-evolving glioma, provide clinical observation with close monitoring; chemotherapy is indicated only in presence of clinical signs and symptoms, or neuroimaging of progression. In the optic nerve tumours, surgery is reserved for patients with blindness, severe proptosis; chiasmatic tumours need surgery in case of exophytic tumours, with cystic component causing severe hydrocephalus or brain compression. patients and methods This is an observational study of 14 cases of OPG (5 males and 9 females) in patients with NF1, diagnosed from 1999 to 2015 c/o Paediatric Oncology Unit of our Department. We evaluated the clinical and radiological course and response to treatment of OPG. Results OPG were located exclusively to the optic nerves level in 43% of patients; 38% presented hypothalamus-optical-chiasmatic localization and 19% had chiasm or optic tracts involvment. The 57% of patients needed of chemotherapy according to the Protocol for Low Grade Glioma, cause of worsening of visual acuity, exophthalmoses or rapid increase of mass-size. The average age of chemotherapy start was 4.6 years (range 1.9 to 7 years). In only two cases there was marked reduction in the size of glioma, while in other cases the radiological picture was confirmed stationary at the stop-Therapy. Chemotherapy has allowed to stabilise the visual impairment, improving in 50% of cases the visual field. Conclusions Our data, accordingly with literature, confirmed that chemotherapeutic treatment for OPG is still unsatisfactory in most cases.

There are conflicting data regarding the potential impact of chronic glucocorticoid (GC) therapy on the bone mineral density of patients with congenital adrenal hyperplasia (CAH). Previous studies performed by dual-energy X-ray absorptiometry reported conflicting results. The purpose of this study was to assess the impact of chronic GC replacement treatment in children with classical and non classical CAH due to 21-hydroxylase deficiency (21-OHD) by quantitative ultrasonometry (QUS), an easy, cheap, and radiation-free technique. The study population consisted of nineteen 21-OHD patients (nine males) on lifelong GC treatment. Anthropometric, hormonal, and treatment data were recorded for each patient, and bone quality was assessed by QUS measurements. QUS findings (amplitude-dependent speed of sound and bone transmission time) were normal in 21-OHD patients and did not correlate with duration of treatment, daily, total, and yearly hydrocortisone dose. Furthermore, no significant correlation was found between QUS findings and 17α-hydroxy progesterone, Δ4-androstenedione, and testosterone levels. In conclusion, our results provide reassurance that currently used replacement doses of GC do not have a major impact on bone in patients with CAH. QUS seems to be a reliable tool for screening of bone health in children with 21-OHD.

Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally relevant pathways and model organisms has provided some success, alternative approaches are demanded.Next generation sequencing platforms are facilitating the production of massive amounts of sequencing data, primarily from the protein coding regions of the genome, at a faster rate and cheaper cost than has previously been possible. These platforms are permitting the identification of variants (de novo, rare, and common) that are drivers of NYTD etiology, and the cost of the approach allows for the screening of increased numbers of affected and unaffected individuals from NTD families and in simplex cases.The next generation sequencing platforms represent a powerful tool in the armory of the genetics researcher to identify the causal genetic basis of NTDs.

GRP94, the endoplasmic reticulum (ER) paralog of the chaperone Hsp90, plays an essential role in the structural maturation or secretion of a subset of proteins destined for transport to the cell surface, such as the Toll-like receptors 2 and 4, and IgG, respectively. GRP94 differs from cytoplasmic Hsp90 by exhibiting very weak ATP binding and hydrolysis activity. GRP94 also binds selectively to a series of substituted adenosine analogs. The high resolution crystal structures at 1.75-2.1 A of the N-terminal and adjacent charged domains of GRP94 in complex with N-ethylcarboxamidoadenosine, radicicol, and 2-chlorodideoxyadenosine reveals a structural mechanism for ligand discrimination among hsp90 family members. The structures also identify a putative subdomain that may act as a ligand-responsive switch. The residues of the charged region fold into a disordered loop whose termini are ordered and continue the twisted beta sheet that forms the structural core of the N-domain. This continuation of the beta sheet past the charged domain suggests a structural basis for the association of the N-terminal and middle domains of the full-length chaperone.

Non-cardiogenic pulmonary edema (NCPE) is a rare entity manifested by pulmonary edema with normal pulmonary arterial pressures. NCPE has been described in children and recently reported in adults. Onset is rapid and late recognition or inappropriate treatment may lead to a fatal outcome. Most adult cases have been attributed to laryngospasm and generation of a large negative intrathoracic pressure causing transcapillary filtration. The majority of reported adult cases were at risk for Upper Airway Obstruction (UAO). This report describes three young, active duty men who developed this entity following routine uncomplicated surgical procedures. Intubations were uncomplicated and fluid management appropriate. No patient had risk factors for UAO. Early extubation with respiratory attempts against a closed glottis may be etiology for this complication.

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Non-cardiogenic pulmonary edema (NCPE) is a rare entity manifested by pulmonary edema with normal pulmonary arterial pressures. NCPE has been described in children and recently reported in adults. Onset is rapid and late recognition or inappropriate treatment may lead to a fatal outcome. Most adult cases have been attributed to laryngospasm and generation of a large negative intrathoracic pressure causing transcapillary filtration. The majority of reported adult cases were at risk for Upper Airway Obstruction (UAO). This report describes three young, active duty men who developed this entity following routine uncomplicated surgical procedures. Intubations were uncomplicated and fluid management appropriate. No patient had risk factors for UAO. Early extubation with respiratory attempts against a closed glottis may be etiology for this complication.

Complications arising from Meckel's diverticulum are uncommon in adults and are seldom, if ever, seen in the elderly. When they do occur in adults, intestinal obstruction or inflammation is the usual mode of presentation, hemorrhage being much less common. The patient described in this case report was 78 yr old, presented initially with iron deficiency anemia and, later, developed severe acute hemorrhage. The cause of the hemorrhage was ulceration at the tip of an invaginated Meckel's diverticulum. The ulceration was not peptic in origin, as is usually the case in similar presentations in children, no ectopic oxyntic mucosa being detected in the diverticulum of our patient. In previous reports, invaginated Meckel's diverticula have always been accompanied by intussusception, and abdominal pain has been an important part of the symptom complex in such patients. Our patient had no abdominal pain, and no intussusception was noted at surgery. This case emphasizes the need for considering a Meckel's diverticulum as the source of acute or chronic hemorrhage, irrespective of the patient's age. The utility of radionuclide blood pool imaging in arriving at a diagnosis in these cases is discussed.

Patients treated with long-term hemodialysis may develop carpal tunnel syndrome, cystic bone lesions, and/or an arthropathy. This syndrome has been called hemodialysis-related amyloidosis (HRA) and appears to be the result of the accumulation of polymerized Beta-2 microglobulin (B2M). The risk to patients treated with peritoneal dialysis is unknown. Diphosphonate scans have been advocated as a useful noninvasive test for HRA. The authors report a well-documented case of HRA established during hemodialysis and progressing during peritoneal dialysis. In addition, this patient's HRA was not identified by a diphosphonate scan. This is the second well-documented case of HRA associated with peritoneal dialysis.

Eleven of 14 survivors who sustained trauma to the abdominal aorta have been evaluated 16 to 18 years after injury through personal interview, physical examination, and abdominal contrast computerized tomography (CCT). The average age of survivors was 39 years (range, 37-47). All patients had minimal debridement of the aortic injury with lateral arteriorrhaphy. No patients had symptoms of arterial insufficiency. However, five patients had abnormal ankle/brachial indices (ABI). In four patients, ABI was less than 1.00 at rest and a fifth patient's ABI decreased significantly: 0.60 left and 0.65 right from an average of 1.00 bilaterally after standardized exercise treadmill. CCT evaluation revealed aortic calcification in five patients in the area of aortic injury. Aortic calcification occurred only in the patients with abnormal ABI's. This long-term followup identifies no evidence for late compromise in the aorta; however, there is a suggestion that injury and repair may contribute to the accelerated development of atherosclerosis.

[This corrects the article DOI: 10.1016/j.radcr.2020.10.057.]., (© 2022 Published by Elsevier Inc. on behalf of University of Washington.)