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Objective To determine the potential predictors of antegrade ureteral stenting (AUS) failure in patients with malignant and benign ureteral obstruction. Method We retrospectively evaluated 116 AUS procedures performed in 80 patients for ureteral obstruction due to malignant and benign causes. Variables such as etiology for obstruction, ureter shape, previous treatment regimen, history of ileal loop diversion, and presence of percutaneous nephrostomy were recorded. Univariate and multivariate logistic regression methods were used between these variables and stent failure. Results Antegrade ureteral stenting was performed as single stage in 24 procedures (n: 24/116, 21%) and performed as a two-step approach after percutaneous nephrostomy in 92 procedures (n: 92/116, 79%). Ureteral stent was successfully deployed in 112 AUS procedures (n: 112/116, 96.5%). In 35 of these successful procedures, the patients were referred to our department due to prior failed retrograde ureteral stenting (RUS). Subsequent stent failure occurred in 40 procedures after a median interval of 39 days. Pre-stenting percutaneous nephrostomy (PN) was a statistically significant risk factor for stent failure (p: 0.041), and age showed an inverse relationship with stent failure (p: 0.008). Complications in early (within the first 30 days after procedure) and late stage occurred in a total of 17 procedures. Early complications included urinary tract infection (n: 11), stent migration (n: 3), and malposition (n: 1). Late complications (after 30 days) were urinary tract infection (n: 1) and stent migration (n: 1). Conclusion This study suggests that AUS can be performed effectively in both benign and malignant ureteral obstructions including cases with prior failed RUS. Two-step AUS after percutaneous nephrostomy was found to be a significant risk factor for subsequent stent failure in our study cohort.

Background: Tracheobronchopathia osteochondroplastica (TO) is a rare idiopathic disease with a stable course that involves the mucous membrane of the tracheobronchial tree. Most cases present no specific symptoms, and there are currently no established guidelines for diagnosis and treatment. In this report, we discuss a single case of a patient with TO who was diagnosed based on clinical imaging and histopathology. Case Summary: A patient with a history of smoking and alcohol consumption, but no specific clinical symptoms, was diagnosed with TO after undergoing fiber-optic bronchoscopy. Nodular processes with smooth surface mucosa and detached bronchial mucosa were observed. The presence of TO was confirmed by pathological examination. Conclusion: The diagnosis of TO is difficult, and early fiber-optic bronchoscopy and pathological examination should be performed to facilitate the diagnosis.

Kikuchi-Fujimoto disease (KFD) is rare, and many infectious agents have been suspected for its etiology. This report presents an interesting case of KFD found with torque teno virus/torque teno minivirus (TTV/TTMV), which closely resembles the circovirus that causes necrotizing lymphadenitis in pigs. Three Korean patients showed several enlarged lymph nodes in their neck. Quantitative polymerase chain reaction (qPCR) and subsequent DNA sequencing for TTV/TTMV using formalin-fixed paraffin-embedded tissue were performed. Histologic examination demonstrated typical features of KFD. qPCR showed successful amplification of TTV/TTMV, and DNA sequencing confirmed the results. It is the first report of TTV/TTMV presence in three patients with KFD.

Breast milk is a rich source of infants' nutrition and also known to be a source of immune-enhancing molecules. The perinatal factors might have long-term effects on the immune system and also, breastfeeding may have an important role. Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease that leads to various organ damages. This idiopathic disease is characterized by high levels of autoantibodies in the circulation. In this case–control study, we have evaluated the association between the breastfeeding and mode of delivery and SLE incidence. In this case–control study, SLE cases were identified in Children's Medical Center and Imam Khomeini Hospital Complex between 2011 and 2017. The control group was chosen from the schools of Tehran and Sari cities. The questionnaires were completed by one of the parents. Seventy-nine cases and 301 controls were included. There was no association among breastfeeding, duration of breastfeeding or exclusive breastfeeding and SLE, the age of diagnosis, or its major organ involvements (p > 0.05). The cesarean section (C-section) method was significantly associated with higher disease incidence (p

Background Late‐onset laryngeal paralysis (LoLP) is an idiopathic disease of older dogs, and is common in the Labrador Retriever. Owner perspective of how LoLP affects their pet's quality of life (QOL), the degree to which LoLP is perceived to be a life‐limiting disease, and how a glottic opening procedure affects these perceptions is not known. Objectives (a) To determine owner's perception of late‐onset laryngeal paralysis (LoLP) with respect to their dog's QOL; (b) To determine whether LoLP is considered by owners to be a life‐limiting disease; (c) To evaluate whether a glottic opening procedure altered QOL and perceived cause of death in affected dogs. Methods Owners of Labrador Retrievers with LoLP completed a questionnaire. Questions were asked pertaining to a dog's LoLP, including clinical progression and perception of cause of death, and whether a glottic opening procedure was undertaken. Owners also completed a pet‐owner administered QOL survey. Results Seventy‐six owners participated. Overall, 94% of owners felt their dog's LoLP affected QOL, and 47% of owners felt LoLP was a large contributing factor in their dog's death. Dogs that underwent a glottic opening procedure were reported to have a better QOL, and the contribution of LoLP towards their death was less than dogs that did not have surgery. Conclusion Owners of Labrador Retrievers with LoLP perceive LoLP to be a life‐limiting disease that negatively impacts their dog's QOL. Arytenoid lateralization surgery had a positive impact on QOL in affected dogs., Owner perspective of how late‐onset laryngeal paralysis (LoLP) affects their pet's quality of life, the degree to which LoLP is perceived to be a life limiting disease, and how a glottic opening procedure affects these perceptions is not known. Seventy six owners of dogs affected with LoLP were surveyed. Results show that LoLP is considered by owners to be a life‐limiting disease that negatively impacts their dog's quality of life, and arytenoid lateralization surgery had a positive impact on quality of life for affected dogs.

Introduction: Alzheimer’s disease (AD), and idiopathic Parkinson’s disease (IPD) are the neurodegenerative diseases of the central nervous system (CNS). Cognitive impairment is on the forefront in AD. However, IPD is a movement disorder. Inflammation was suggested to have an effect in the pathophysiology of these two diseases. Neutrophil–lymphocyte ratio (NLR) was shown to be a possible marker showing the peripheral inflammation. We aimed to investigate the NLR of patiens with the diagnosis of AD, and IPD, and individuals with no neurodegenerative disease. Materials and methods: A total of 100 patients with the diagnosis of IPD, and 94 with diagnosis of AD, and 61 healthy controls were included into the study. All the demographic, clinical, and laboratory data were retrospectively obtained from the hospital automated database system. Results: The NLR in the IPD group was found statistically significantly higher compared with the control group and the AD group (p < 0.001, p = 0.04, respectively). The age-adjusted values were statistically analyzed because of age difference. No statistically significant difference was detected between AD and control groups in terms of NLR (p = 0.6). The age-adjusted NLR value in the Parkinson’s group was found significantly higher compared to the control group (p = 0.02) and Alzheimer’s group (p = 0.03). Discussion: Chronic inflammation has an important role in the emergence and progression of the chronic neurodegenerative diseases of the CNS. Our results show that the inflammation in the peripheral blood in IPD was more significant compared with the inflammation in AD. © 2021, Fondazione Società Italiana di Neurologia.

la colitis eosinofílica es una enfermedad rara e idiopática caracterizada por la infiltración eosinofílica del colon y que hace parte del espectro de la gastroenteritis eosinofílica. Esta entidad tiene síntomas inespecíficos y en la actualidad no hay estudios clínicos por lo cual la evidencia científica se basa en series de casos o reportes aislados. Esta patología requiere de un enfoque diagnóstico adecuado para descartar otras causas de eosinofília en el colon para poder así ofrecer un manejo farmacológico y no farmacológico dirigido y especializado para lograr la remisión de la enfermedad por lo cual para ofrecer una atención oportuna se debe tener en cuenta dentro del diagnóstico diferencial de aquellos pacientes jóvenes con diarrea crónica para lograr mejorar el enfoque diagnóstico de estos pacientes y promover la realización de estudios clínicos que mejoren la calidad de la evidencia científica actual. Presentamos el primer caso con compromiso exclusivo del colon reportado en Colombia de una mujer con antecedente de enfermedades atópicas

Primary hyperhidrosis, an idiopathic disease that commonly affects the palms, soles, axillae, or craniofacial region, is characterized by perspiration in excess of what is required for physiologic cooling. This disease begins in childhood or adolescence and negatively impacts emotional, physical, and psychologic well-being. This review explores current therapeutic options for primary hyperhidrosis in the pediatric population, including topical therapies, oral therapies, non-surgical and procedural interventions, and adjunctive therapies. In addition, this review identifies new and emerging treatments and highlights the need for further research and therapeutic options for this impactful disease.

Objective: To evaluate the efficacy of single and combined use of biofeedback (BF) and electrical stimulation (ES) added to bladder training (BT) on incontinence-related quality of life (QoL) and clinical parameters in women with idiopathic overactive bladder (OAB). Material and Methods: Seventy women were randomized into four groups as follows: Group 1 received BT alone (n = 18), Group 2 received BT + BF (n = 17), Group 3 received BT + ES (n = 18), and Group 4 received BT + BF + ES (n = 17). BF and ES were performed 3 days a week, 20 min a day, a total of 24 sessions for 8 weeks. All women were evaluated in terms of incontinence severity (pad test), pelvic floor muscles strength (perineometer), 3-day voiding diary (frequency of voiding, nocturia, incontinence episodes, and number of pads), QoL (incontinence impact questionnaire), treatment success (positive response rate), cure/improvement rate, treatment satisfaction (Likert scale), and discomfort level (visual analog scale). Results: At the end of the treatment, severity of incontinence, frequency of voiding, incontinence episodes, and treatment satisfaction significantly improved in Group 3 and Group 4 compared with the other two groups. In Group 3 and Group 4, high statistically significant values were found in cure/improvement and positive response rates as opposed to Group 1 and Group 2. In Group 2 and Group 3, statistically significant improvements were seen in nocturia and QoL compared with Group 1. Moreover, statistically significant improvements in nocturia and QoL were found in Group 4 compared with the other three groups. There was no difference in the discomfort level of application between the groups. Conclusion: We conclude that in the first-line conservative treatment of women with idiopathic OAB: (i) adding BF and/or ES to BT increases treatment effectiveness, (ii) clinical efficiency is greater when the combination includes ES, (iii) BT + BF + ES (triple combination) is the most effective treatment option in reducing nocturia and improving QoL. © 2020 Wiley Periodicals LLC

Historical documents dating back almost 4500years have alluded to the condition of epilepsy, describing signs and symptoms that are well-known today. Epilepsy was thought to be a mystical disorder by almost all Ancient cultures, including the Babylonians, Egyptians, Greeks, Indians, Iranians and Chinese. Hippocrates was the first to de-mystify the condition of epilepsy, providing a more scientific approach to the condition. As the signs and symptoms of epilepsy occurred without an obvious cause, the idea stood that it was a mystical phenomenon of divine punishment. This portrayal persisted through the early centuries of the common era, including the Middle Ages. It was not until the 16th and 17th century that Paracelsus, le Pois and Sylvius started to investigate internal causes for epilepsy. By the beginning of the 18th century, the general opinion on epilepsy was that it was an idiopathic disease residing in the brain and other inner organs. This resulted in Tissot writing the first modern book on epilepsy. Research continued in the 19th century with Jackson describing different types of seizures and many researchers showing interest in electroencephalography (EEG). The 20th century saw more detailed research being done on epilepsy and EEG, in addition to the establishment of many epilepsy-associated medical societies. The goal of this historical documentation is to provide an overview of the most important milestones in the history of epilepsy.

Rosai Dorfman disease, also known as histiocytosis with massive lymphadenopathy, is a very rare idiopathic disease. It is characterized by over production and accumulation of non Langerhans sinus histiocyte most often in lymph nodes, but may occur in other areas leading to organ damage. Based on the research, it can be caused by an infectious agent, immunodeficiency or autoimmunity and genetic causes. Extranodal manifestation is uncommon, however extranodal sites include liver, kidney, respiratory organs, orbit and eyeball. We present a case report of a 44-year-old female with recurrent bilateral orbital infiltration as first location of Rosai Dorfman disease.

Pyoderma gangrenosum (PG) is a rare neutrophilic inflammatory disease, characterized by necrotizing and painful ulcers of unknown cause, that it is often misinterpreted. PG is usually idiopathic and includes dysregulation of the autoimmune system and frequently has an association with other systemic diseases (inflammatory bowel disease, rheumatological, hematological disease or malignancy). The most common localization is on the lower legs, mainly in the pretibial area. We describe a case of Pyoderma gangrenosum in a 43 year-old female patient with erythemato-edematous big plaque, covered with sphacelous, yellow-green pus, localized on the left inguinal area and pubic area, which is a rare localization of this disease.

Background Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis. Methods Of the 101 WES cases, 51 were rare idiopathic disease cases and 50 were postmortem “molecular autopsy” cases of early sudden unexplained death. Variants considered for reporting were prioritized and classified into three groups: (1) diagnostic variants, pathogenic and likely pathogenic variants in genes known to cause the phenotype of interest; (2) possibly diagnostic variants, possibly pathogenic variants in genes known to cause the phenotype of interest or pathogenic variants in genes possibly causing the phenotype of interest; and (3) variants of uncertain diagnostic significance, potentially deleterious variants in genes possibly causing the phenotype of interest. Results Initial analysis revealed diagnostic variants in 13 rare disease cases (25.4%) and 5 sudden death cases (10%). Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively. Conclusions The basis of new findings ranged from improvement in variant classification tools, updated genetic databases, and updated clinical phenotypes. Our findings highlight the potential for re-analysis to reveal diagnostic variants in cases that remain undiagnosed after initial WES.

Rheumatoid Arthritis (RA) is an idiopathic disease characterized by systemic inflammation, persistent synovitis, and the presence of autoantibodies. Because of the musculoskeletal deformity caused by RA, multiple orthopaedic procedures are regularly performed as part of the treatment. The changing rates of surgery and the rise in new efficacious medical therapy have improved the prognosis for patients with RA. This review will discuss the natural history of rheumatoid arthritis, common medications used to treat it, how disease progression has changed as a function of new biologic immunotherapy, and the role of orthopaedic intervention in this new landscape of advanced rheumatoid care.

BackgroundParkinson disease is an intractable disorder with heterogeneous clinical presentation that may reflect different underlying pathogenic mechanisms. Surrogate indicators of pathogenic processes correlating with clinical measures may assist in better patients stratification. Mitochondrial function - which is impaired in and central to PD pathogenesis - may represent one of such surrogate indicators.MethodsMitochondrial function was assessed by respirometry experiment in fibroblasts derived from idiopathic patients (n=47) in normal conditions and in experimental settings that do not permit glycolysis and therefore force energy production through mitochondrial function. Respiratory parameters and clinical measures were correlated with bivariate analysis. Machine learning based classification and regression trees were used to classify patients on the basis of biochemical and clinical measures. Effects of mitochondrial respiration on alpha-synuclein stress was assessed monitoring the protein phosphorylation in permitting versus restrictive glycolysis conditions.ResultsBioenergetics properties in peripheral fibroblasts correlate with clinical measures in idiopathic patients and correlation is stronger with predominantly non-dopaminergic signs. Bioenergetics analysis under metabolic stress, in which energy is produced solely by mitochondria, shows that patients’ fibroblasts can augment respiration, therefore indicating that mitochondrial defects are reversible. Forcing energy production through mitochondria, however, favors alpha-synuclein stress in different cellular experimental systems. Machine learning-based classification identified different groups of patients in which increasing disease severity parallels higher mitochondrial respiration.ConclusionSuppression of mitochondrial activity in Parkinson disease may be an adaptive strategy to cope with concomitant pathogenic factors. Moreover, mitochondrial measures are potential biomarkers to follow disease progression.

La dermatomyosite est une maladie systémique idiopathique, associant une double symptomatologie cutanée et musculaire. La maladie fait partie de dermatose paranéoplasique. L’association de la dermatomyosite à un cancer rectal est rarement décrite dans la littérature. Nous présentons un cas d’une patiente atteinte de dermatomyosite paranéoplasique associé à un adénocarcinome rectal métastatique, et qui a présenté une symptomatologie clinique typique d’une dermatomyosite paranéoplasique, confirmée par les autres examens complémentaire (taux de créatine phosphokinase (CPK) + EMG (électromyogramme) + biopsie cutanée). La patiente était mise sous chimiothérapie, mais après sa deuxième cure, la patiente a présenté une aggravation rapide de son état général, décédée en quelque jours dans un tableau de défaillance multi-viscérale. Notre objectif est d’illustrer le caractère agressif de la dermatomyosite paranéoplasique et de faire une mise au point des connaissances actuelles concernant la place de la chimiothérapie dans la dermatomyosite néoplasique.

Throughout the animal kingdom, p53 genes function to restrain mobile elements and recent observations indicate that transposons become derepressed in human cancers. Together, these emerging lines of evidence suggest that cancers driven by p53 mutations could represent "transpospoathies," i.e. disease states linked to eruptions of mobile elements. The transposopathy hypothesis predicts that p53 acts through conserved mechanisms to contain transposon movement, and in this way, prevents tumor formation. How transposon eruptions provoke neoplasias is not well understood but, from a broader perspective, this hypothesis also provides an attractive framework to explore unrestrained mobile elements as inciters of late-onset idiopathic disease. Also see the video abstract here.

Moyamoya disease is an idiopathic disease characterized by the progressive stenosis and collateral development of the distal internal carotid arteries. In this disease, several collateral vascular structures develop following stenosis and occlusion. The ivy sign is a characteristic Magnetic rezonance imaging (MRI) finding frequently encountered in patients with moyamoya. It can be observed both in post contrast T1-weighted images and Fluid attenuated inversion recovery (FLAIR) images. While this sign manifests in the form of contrasting on the cortical surfaces due to the formation of leptomeningeal collateral development and increased numbers of pial vascular webs on post contrast images, in FLAIR images it originates from the slow arterial flow in the leptomeningeal collateral vascular structures. In this case, we presented the Digital subtraction angiography (DSA) signs of moyamoya disease and “ivy sign” in MRI and its development mechanism in a 16 years old female patient.

The purpose of this paper is to discuss the rare presentation of pneumosinus dilatans (PDS) of the sphenoid sinuses in a pediatric patient manifesting as acute visual loss, and his successful treatment with surgical intervention. A total of 29 cases of sphenoid sinuses in the literature were reviewed. 11 patients (37.93%) were classified as having idiopathic disease. 22 patients (75.86%) presented with visual loss as their chief complaint. All 3 patients with idiopathic PDS that underwent sphenoidotomy had resolution of their symptoms. When symptomatic sphenoid sinus PDS is diagnosed, endoscopic sphenoidotomy should be considered as primary treatment.

Rare genetic variants are the major cause of Mendelian disorders, yet only half of described genetic diseases have been causally linked to a gene. In addition, the total number of rare genetic diseases is projected to be far greater than that of those already described. Whole-genome sequencing of patients with subsequent genetic and functional analysis is a powerful way to describe these gene anomalies. However, this approach results in tens to hundreds of candidate disease-causative genes, and the identification of additional individuals suffering from the same disorder can be difficult because of rarity and phenotypic heterogeneity. We describe a genetic network–based method to rank candidate genes identified in family-based sequencing studies, termed phenotype informed network (PIN) ranking. Furthermore, we present a case study as an extension of the PIN ranking method in which disease symptoms drive the network ranking and identification of the disease-causative gene. We demonstrate, through simulation, that our method is capable of identifying the correct disease-causative gene in a majority of cases. PIN-rank is available at https://genomics.scripps.edu/pinrank/ . We have developed a method to prioritize candidate disease-causative genes based on symptoms that would be useful for both the prioritization of candidates and the identification of additional subjects. Genet Med 17 11, 859–865.

Dilated Cardiomyopathy (DCM) is usually an idiopathic disease with progressive and irreversible poor outcomes. Cases of “Reversible DCM” however secondary to hypothyroidism have been emerging recently. 39 year old female who presented with acute shortness of breath and severe dyspnea on

Childhood uveitis comprises a collection of heterogenous ocular phenotypes which are associated with a diverse range of childhood autoimmune and autoinflammatory disorders. Of these genetic and/or acquired disorders, juvenile idiopathic arthritis is the most common, affecting 30-80% of children with uveitis. Up to a third of children with uveitis have ‘isolated’ idiopathic disease and do not have an associated systemic disease which manifests in childhood. However, uveitis may be the presenting manifestation of disease; thus, the apparently well child who presents with uveitis may have isolated idiopathic disease, but they may have an evolving systemic disorder. The diagnosis of most of the associated disorders is reliant on clinical features rather than serological or genetic investigations, necessitating detailed medical history taking and systemic examination. Adequate control of inflammation is key to good visual outcomes, and multidisciplinary care is key to good broader health outcomes.

Sarcoidosis is an idiopathic disease, characterized by non-caseating granulomas in multiple organs/tissues. Cutaneous involvement occurs in approximately one-quarter of patients with a wide variety of presenting morphologies. This case report describes a case of photodistributed sarcoidosis, a rare cutaneous variant, with systemic involvement. A 42-year-old man presented with a history of a pruritic, rash with photoexacerbated annular plaques along with arthralgias and bone pain. Compared to previous reports of photodistributed sarcoidosis, our case presented with annular plaques rather than papules, and there was no prior exposure to ionizing radiation. He was treated successfully with prednisone and hydroxychloroquine. It is important to include sarcoidosis in the differential of photodistributed dermatoses.

Crohn's disease (CD) is a chronic, recurring, idiopathic disease which is associated with imbalanced mucosal immune response, manifesting as a chronic inflammation of any location throughout the gastrointestinal tract. The purpose of currently available therapy is to suppress the heightened immune response. However, these treatments have no direct influence on the healing process of damaged tissues. The mesenchymal stem cell (MSC) therapy may represent a new alternative solution in both luminal and fistulizing CD, as it is able to inhibit the inflammation and promote the regeneration process at the same time.Aim of this review is to summarize the existing clinical data about the clinical impact of MSC therapy in luminal and perianal fistulizing CD.Clinical trials demonstrated that MSC transplantation has an outstanding, durable efficacy with low fistula recurrence in biological therapy-refractory fistulizing CD; however, further clinical trials are required to confirm its effectiveness in luminal CD. Unlike to biological therapy, MSCs are able to promote the regeneration process of damaged tissues as well. This additional benefit besides their sustained immunosuppressive effect with no decrease of efficiency over time makes MSCs a new, highly potential therapeutic approach in the management of inflammatory bowel disease.

We present a case study of Tolosa-Hunt syndrome, a rare idiopathic disease, that is characterized by painful ophthalmoplegia of strong intensity, generally affecting the third cranial nerve, and, less frequently, the fourth or the sixth cranial nerves. Usually, there is no visual impairment. The treatment is based on corticosteroids with satisfactory results in most cases although recurrences can occur at intervals from months to years. In our case, the patient presented sudden pain periorbital associated with cranial nerves involvement, which have an excellent outcome after treatment with corticosteroids, with no relapses until today.

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effects of interventions for pruritus of unknown cause in adults and children. © 2018 The Cochrane Collaboration.

Phenobarbital-responsive sialadenosis (PRS) is a rare idiopathic disease in dogs. Vomiting, retching, and gulping with bilateral enlargement of the submandibular salivary glands are the more frequent clinical signs. A thorough diagnostic examination must be performed to rule out the most important systemic etiologies involved with chronic vomiting, as there is no specific test to diagnose PRS. Diagnosis is confirmed clinically by a rapid and dramatic improvement of clinical signs after instauration of phenobarbital treatment. The aim of this article is to describe the clinical presentation, diagnostic findings, and outcome of a case series of 4 dogs with presumptive PRS.

Rationale:Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare idiopathic disease with only about 100 cases reported in the literature.Patient concerns:Here, we presented 4 cases of DIPNECH. Four patients included 2 females and 2 males, aged 54 to 64 years old; 3

Dilated cardiomyopathy (DCM) is usually an idiopathic disease with a poor prognosis. Hypocalcemia is a rare and reversible cause of DCM. Here, we report a 50-year-old female with DCM, induced by idiopathic hypoparathyroidism, that improved after treatment with calcium.

Introduction: Alopecia areata is a unique, idiopathic disease in which there is patchy hair loss. The variable and uncertain natural history of alopecia areata is accounting for the multiplicity of uncritical claims for a large variety of therapeutic procedures. Aim: to find the therapeutic comparison between tacrolimus 0.1% ointment and minoxidil 2% solution. Material and Methods: Patients attending skin out patient department in Navodaya medical college hospital and research centre, Raichur were screened and the consenting consecutive cases of Aopecia Areata (AA) from December 2010 to November 2011 were chosen for study. There were 75 patients in the study. It is a randomized, single blind, intension to treat study. The eligible patients for the study were randomly allocated into two groups-Group A and Group B (38 in Group A and 37 in Group B). Patients in Group A were treated with 2% Minoxidi solution to be applied twice daily over the alopecia patch, where as Patients in Group B were treated with Tacrolimus 0.1% ointment applied twice daily. Patients were followed up at 2, 4, 6, 8, 10 and 12 weeks. Alopecia Grading Score (AGS) was calculated at baseline and 12 weeks. Regrowth Score (RGS) was calculated at 12 weeks. Results: Total 69 patients completed the study (35 in Group A and 34 in Group B). In our study RGS ≥ 3 was observed in 65.71% of patients treated with Tinoxidil 2% solution and 44.12% of patients treated with Tacrolimus 0.1% ointment. Conclusion: In our study Minoxidil 2% solution had better stimulatory effect on hair growth compared to Tacrolimus 0.1% ointment in the treatment of mild to moderate patchy alopecia areata. The combination treatment may yield a better clinical response than either of the agents used singly.

Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C and gt;A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. © 2012 Mosby, Inc. All rights reserved.