scholarly journals Rab27a

2001 ◽  
Vol 152 (4) ◽  
pp. 843-850 ◽  
Author(s):  
Philippe Bahadoran ◽  
Edith Aberdam ◽  
Frédéric Mantoux ◽  
Roser Buscà ◽  
Karine Bille ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Vesicle Transport ◽  
Myosin V ◽  
Griscelli Syndrome ◽  
V Gene ◽  
Rare Autosomal Recessive Disease ◽  
Phenotypic Reversion

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes.

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

2014 ◽  
Vol 35 (1) ◽  
pp. 97-99 ◽  
Author(s):  
Valentina D'Ambrosio ◽  
Carmela Votino ◽  
Teresa Cos ◽  
Sebastien Boulanger ◽  
Annelies Dheedene ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Cgh Array ◽  
Ellis Van Creveld Syndrome

scholarly journals Acitretin Treatment for Lipoid Proteinosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Özgür Gündüz ◽  
Neriman Şahiner ◽  
Pınar Atasoy ◽  
Çağrı Şenyücel
Keyword(s):  
Respiratory Tract ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Importance ◽  
Histological Evaluation ◽  
Upper Respiratory Tract ◽  
Cutaneous Lesions ◽  
Lipoid Proteinosis ◽  
Upper Respiratory ◽  
Rare Autosomal Recessive Disease

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: In recent years, hair shaft anomalies have been described as “matchstick” and “golf tee” signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

scholarly journals Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: The first four patients in Serbia

2010 ◽  
Vol 138 (5-6) ◽  
pp. 351-355 ◽  
Author(s):  
Amira Peco-Antic ◽  
Martin Konrad ◽  
Gordana Milosevski-Lomic ◽  
Nikola Dimitrijevic
Keyword(s):  
Renal Failure ◽  
Secondary School ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Index Case ◽  
Serum Magnesium ◽  
Magnesium Supplementation ◽  
Moderate Renal Failure ◽  
Severe Growth ◽  
Rare Autosomal Recessive Disease

Introduction Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. Outline of Cases The first three patients were siblings from the same family. The index case, a 9-yearold girl, presented with severe growth retardation, polyuria and polydipsia, while her brothers, 11 and 7 years old, were disclosed during family member screening. The father had a urolithiasis when aged 18 years, while intermittent microhaematuria and bilateral microlithiasis persisted later on. The fourth patient, a 16-year-old boy with sporadic FHHNC was discovered to have increased proteinuria at routine examination of urine before registration for secondary school. He was well grown up, normotensive, but had moderate renal failure (CKD 3 stage), mild hypomagnesaemia and severe hypercalciuria and nephrocalcinosis. Beside typical clinical and biochemical data, the diagnosis of FHHNC was confirmed by mutation analysis of the CLDN16 gene; in all four affected individuals a homozygous CLDN16 mutation (Leu151Phe) was found. Treatment with magnesium supplementation resulted in the normalization of serum magnesium levels only in one patient (patient 4), but hypercalciuria persisted and renal failure progressed in all patients. Conclusion FHHNC is a rare cause of chronic renal failure. The first four patients with FHHNC in Serbia have been here described. The diagnosis of FHNNC based on the findings of nephrocalcinosis with hypomagnesiaemia and hypercalciuria, was confirmed by homozygous paracellin1-mutation exhibiting a Leu151Phe. .

scholarly journals Infantile Sandhoff's disease

2009 ◽  
Vol 13 (3) ◽  
pp. 66 ◽  
Author(s):  
K Sass ◽  
S Wiebe ◽  
E Lemire
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Radiological Features ◽  
Rare Autosomal Recessive Disease ◽  
Case Based

Case based review of the rare autosomal recessive disease. Clinical and Radiological features described in detail.

CONGENITAL AFIBRINOGENAEMIA: DIAGNOSIS, CLINICAL FEATURES, FOLLOW-UP STUDY

1987 ◽  
Author(s):  
A M JakloyazAy ◽  
Oa H dnagy
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Renal Calculi ◽  
Bleeding Tendency ◽  
Fresh Blood ◽  
Severe Injuries ◽  
Surgical Interventions ◽  
Follow Up Study ◽  
Rare Autosomal Recessive Disease

Authors followed 6 cases of congenital afibrinogenae- mia (CA) by offsprings of two apparently unrelated families from the same village. The sex ratio was4.m/3.f. CA is a rare autosomal recessive disease. Controlling 76 family members authors detected 11 cases of moderate and 2 cases of severe hypofibrinogeneemia.Among them-without any bleeding tendency-the mother of one case and both parents of two siblings with CA*The lack of fibrinogen was confirmed biochemically and immunologically too. The only symptom ofthe Illness are the severe posttraumatic bleeding. They appear as epistax- is, bleeding of the gums, or anyother bleeding aiter minor or severe injuries*Intraarticular bleeding, as in haemophilia rarely occurs inCA. One of our patients had profuse haematurias, causedby renal calculi. The only therapy is the substitution with transfusions of fresh blood, plasma, or fibrinogen concentrates*The rise of posttransfusional lllnisses grows with the number of transfusions*Stomatological or surgical interventions could be performed only after correction of the dotting abnormalitySo, one of our patients was submitted to splenectomyfor spontaneous rupture at 12 years and to nephrectomy for severe pyelo-caliceal cal- culosis with 19.He recovered fully after both interventions but died at 21 years after a bicycle accidenti The five other patients deceased at the age of 5«resp. 10 months and at 6-lo-resp 12 years. In 3 cases there was a subdural hammorrhage, once an intracranial blee- dingCnon autopsiated)and once a severe intraabdoml- nal haemorrhage after an accidental traumatism of the abdominal wall. The care of the CA cases is mostly a pediatric proble. The frequency of the pottraumatic bleeding decrease with the growth*The schoolchildren are paying more attention to avoid injuries

scholarly journals Ellis van Creveld syndrome: An unusual presentation at birth

2022 ◽  
pp. 538-540
Author(s):  
Vidisha Singh ◽  
Alka Agrawal ◽  
Kailash Chandra Aggarwal
Keyword(s):  
Autosomal Recessive ◽  
Indian Population ◽  
Neonatal Period ◽  
Autosomal Recessive Disease ◽  
Heart Defects ◽  
Consanguineous Marriage ◽  
The World ◽  
Single Atrium ◽  
Ellis Van Creveld Syndrome ◽  
Rare Autosomal Recessive Disease

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

scholarly journals THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS

2018 ◽  
Vol 63 (5) ◽  
pp. 20-28
Author(s):  
A. V. Goryainova ◽  
P. V. Shumilov ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin
Keyword(s):  
Cystic Fibrosis ◽  
Liver Fibrosis ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Manifestations ◽  
History Of ◽  
Connective Tissue Dysplasia ◽  
Severe Fibrosis

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.

Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases

2020 ◽  
Vol 237 (07) ◽  
pp. 841-845
Author(s):  
Sebastian Küchlin ◽  
Philip Christian Maier ◽  
Thomas Reinhard ◽  
Claudia Auw-Hädrich
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Corneal Dystrophy ◽  
Tear Fluid ◽  
Epithelial Barrier ◽  
Disease Course ◽  
Protein Deposits ◽  
Amyloid Deposits ◽  
Frequent Relapses ◽  
Rare Autosomal Recessive Disease

AbstractGelatinous drop-like corneal dystrophy is a very rare autosomal recessive disease classified as an epithelial and subepithelial corneal dystrophy. Patients typically present under the age of 20 with drop-like corneal lesions showing high corneal fluorescein uptake. Their disease course is typically protracted and prone to frequent relapses. The condition is caused by a dysfunction of the epithelial barrier, leading to protein deposits most likely originating from tear fluid. Histology typically shows subepithelial amyloid deposits with corresponding defects of Bowmanʼs layer and epithelial atrophy. Where topical lubricating and anti-inflammatory therapy proves insufficient, penetrating allogenic limbokeratoplasty can be considered in a curative approach. In this report, we present disease courses of 2 unrelated patients. Current findings on pathogenesis are discussed.

scholarly journals Familial Chylomicronaemia: A Neonate with Milky White Blood

2019 ◽  
Vol 38 (2) ◽  
pp. 128-131
Author(s):  
Nanda Kishwor Chaudhary ◽  
Ram Hari Chapagain ◽  
Sani Sipai ◽  
Suryakant Chaudhary ◽  
Krishan Prasad Paudel
Keyword(s):  
Acute Pancreatitis ◽  
Triglyceride Level ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Lipoprotein Metabolism ◽  
Plasma Triglyceride ◽  
Plasma Triglyceride Level ◽  
Elevated Triglyceride Level ◽  
Eruptive Xanthomas ◽  
Rare Autosomal Recessive Disease

Familial Chylomicronaemia is a rare autosomal recessive disease of lipoprotein metabolism characterized by deficiency or absence of lipoprotein lipase (LPL) or its co-factor apoC-II which causes severe elevation of triglyceride and chylomicron resulting in lipaemic plasma, recurrent attacks of acute pancreatitis, eruptive xanthomas, hepato-splenomegaly and lipaemiaretinalis. We report a case of term female neonate with lipaemic plasma, lipemia retinalis, markedly elevated triglyceride level which is consistent with diagnosis of Familial Chylomicronaemia. Keywords: Familial Chylomicronemia, lipemic plasma, triglyceride level, Lipemia retinalis

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