Primary spontaneous pneumothorax (PSP) is not an uncommon disease, especially in patients with risk factors such as male gender, history of smoking, and low body mass index (BMI). Amyotrophic lateral sclerosis (ALS) is a rare disease caused by neurodegeneration of the motor neurons that share risk factors with PSP. The aim of this study was to determine the prevalence of PSP in ALS and find the significant risk factors related to PSP. We retrospectively reviewed the data from 86 patients with clinically probable or definite ALS from three different centers. Clinical characteristics, including age, sex, subtype, disease duration, body mass index, history of smoking, tracheostomy state, and ventilator use, were obtained. The ALS Functional Rating Scale-Revised Form (ALSFRS-R) total score and subscores were also retrieved from the medical records. In the results, six of the 86 patients (7%) had PSP. There were no statistically significant differences among the clinical characteristics and the ALSFRS-R scores between the patients with and without PSP, except for BMI and smoking (p < 0.022 and p < 0.019, respectively). A multivariate logistic regression analysis of smoking and BMI showed an odds ratio of 19.25. In conclusion, the existence of PSP in ALS may be under-recognized. Further well-designed, large studies are needed to elucidate the prevalence and pathophysiology of pneumothorax in ALS. For more information click here.
Multiple Endocrine Neoplasia type 1 (MEN1) has been causing problems for clinicians since it was described in 1954 by Wermer. Not only its rarity, but also variable clinical manifestations and no genotype-phenotype correlation make it hard to establish evidence-based guidelines for management of this syndrome. Nationwide registers and population-based researches are the best means to improve knowledge about this rare disease. By now, there was no example of such research in the Polish population of MEN1 patients. We performed a retrospective analysis of clinical and genetic data of patients diagnosed with MEN1 syndrome and followed-up in two polish referral centers in years 1994-2018. Polish population of patients with MEN1 is different than previously described European and Asian populations primarily in prevalence of functional NETs. Frameshift mutation with STOP codon of MEN1 gene increase significantly risk of PA. Further studies, with a larger cohort of patients, are needed to fully describe the Polish population and improve diagnosis and management of the syndrome. For more information click 
The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-term disease course. Acute and chronic liver disease have been anecdotally reported since the very first description of UCDs. However a detailed analysis of long-term liver involvement in large patient cohorts is still needed. Chronic liver damage in UCDs has probably a multifactorial origin, but the specific underlying mechanisms of liver disease have not yet been well elucidated. In this study, we report on chronic liver involvement and on associated metabolic abnormalities in a large cohort of 102 UCD patients, followed by two reference centers in Italy. Chronic liver involvement was observed in over 60% of UCDs patients, and comparison between individual diseases showed a significant higher frequency in ASLD and in HHH syndrome with elevation of transaminases and of gamma-GT in ASLD, and of alpha-fetoprotein in HHH syndrome. Also, consistent with a chronic hepatic dysfunction, ultrasound examination revealed more pronounced abnormalities in ASLD and in HHH syndrome, when compared to other UCDs. Our study highlights in a large UCDs patients’ cohort that chronic liver disease is a common finding in UCDs, often with a distinct phenotype between different diseases. Furthers studies are needed to elucidate the specific involvement of different metabolic pathways in the pathogenesis of liver dysfunction in UCDs. For more information click 
Angiodysplastic (AD) lesion is the most common cause of recurrent gastrointestinal (GI) bleeding in inherited Von Willebrand disease (VWD) patients lacking high-molecular-weight multimers. Defect or dysfunction of von Willebrand factor (VWF) may lead to enhanced endothelial cell proliferation followed by the development of neoangiogenesis and vascular malformation, which result in severe bleeding. Recurrent bleeding causing by GI AD is a challenging complication of VWD. The management of VWD could be difficult due to frequent recurrence and severity of bleeding episodes. The primary aim of management is not only to stop but also to prevent bleeding. We present two patients of type 3 VWD associated with AD and severe GI bleeding, which were successfully treated by endoscopic coagulation and prophylactic therapy with different regimens of plasma-derived VWF/factor VIII (pdVWF/FVIII) concentrate to maintain a trough level in the patient unresponsive to standard treatment. For more information click 
Тази година 10-та Юбилейна национална конференция за редки болести и лекарства сираци ще се проведе под официалния патронаж на Министерството на здравеопазването.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies. We aimed to investigate the real prevalence of BHDS and its prevalence among patients with a familial history of pneumothorax. From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation. Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies. For more information click 
Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clinical diagnosis or as yet unknown genetic causes resulting in specific retinal phenotypes. The diagnostic yield of targeted next-generation sequencing may be increased by a reasonable preselection of RP-patients. The participants in the study are one-hundred and twelve consecutive RP-patients who underwent extensive molecular genetic analysis. The methods, used in the study are characterization of patients based on multimodal imaging and medical history. Compared to genetically solved patients, genetically unsolved patients more frequently had an age of disease-onset above 30 years, showed atypical fundus features and indicators for phenocopies (eg, autoimmune diseases). Evidence for a particular inheritance pattern was less common. The diagnostic yield was 84% in patients with first symptoms below 30 years-of-age, compared to 69% in the overall cohort. The other selection criteria alone or in combination resulted in limited further increase of the diagnostic yield (up to 89%) while excluding considerably more patients (up to 56%) from genetic testing. The medical history and retinal phenotype differ between genetically solved and a subgroup of unsolved RP-patients, which may reflect undetected genotypes or retinal conditions mimicking RP. Patient stratification may inform on the individual likelihood of identifying disease-causing mutations and may impact patient counselling. For more information click 
We present five Danish individuals with Hajdu-Cheney syndrome (HJCYS) (OMIM #102500), a rare multisystem skeletal disorder with distinctive facies, generalised osteoporosis and progressive focal bone destruction. In four cases positive genetic screening of exon 34 of NOTCH2 supported the clinical diagnosis; in one of these cases, mosaicism was demonstrated, which, to our knowledge, has not previously been reported. In one case no genetic testing was performed since the phenotype was definite, and the diagnosis in the mother was genetically confirmed. The age of the patients differs widely from ten to 57 years, allowing a natural history description of the phenotype associated with this ultra-rare condition. The evolution of the condition is most apparent in the incremental bone loss leading to osteoporosis and the acro-osteolysis, both of which contribute significantly to disease burden. For more information click 
Parry Romberg Syndrome or Progressive Hemifacial Atrophy is a rare disease usually affecting one side of face with loss of soft and hard tissues. The disease appears suddenly and is usually self-limiting in 2-10 years time. The loss of soft and hard tissue leads to aesthetic and functional deficits which are compounded by the presence of associated symptoms like neuralgia, migraine, epilepsy and ocular involvement. The degree of deformity depends on the age at which the disease manifests first; the younger the age, the more severe the deformity. These patients undergo severe psychological trauma and social problems. The exact etiology is not known, and treatment is largely cosmetic. A report of three cases and a literature review is presented. For more information click