scholarly journals Dementia as a core clinical feature of a patient with aceruloplasminemia

2021 ◽  
Author(s):  
Farzad Ashrafi ◽  
Mehri Salari ◽  
Fatemeh Nouri ◽  
fatemeh shiravi
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Iron Accumulation ◽  
Clinical Feature

Aceruloplasminemia is an autosomal recessive disease, caused by systemic iron accumulation due to mutations in the Ceruloplasmin gene. We report two Iranian siblings who have diagnosed with aceruloplasminemia. Based on our researches, dementia hasn’t been published as the first neurological feature while one of them was presented with pure dementia

scholarly journals Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

2020 ◽  
Vol 09 (04) ◽  
pp. 285-288
Author(s):  
Mervan Bekdas ◽  
Guray Can ◽  
Recep Eroz ◽  
Selma Erdogan Duzcu
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Bile Secretion ◽  
Peripheral Blood Sample ◽  
Portal Fibrosis ◽  
Traditional Treatment ◽  
Pathogenic Variants ◽  
Chronic Cholestasis ◽  
Whole Exome

AbstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

scholarly journals Afibrinogenemia

Pulse ◽  
2011 ◽  
Vol 4 (1) ◽  
pp. 34-35
Author(s):  
Tahera Nazrin ◽  
Pinkoo Attawar ◽  
Md Moniruzzaman ◽  
I Islam
Keyword(s):  
Interventional Procedures ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Management Plan ◽  
Rare Disorder ◽  
Minor Trauma ◽  
Chromosome 4 ◽  
Spontaneous Bleeding ◽  
Excessive Bleeding ◽  
Polypeptide Chains

Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3. Spontaneous bleeding, bleeding after minor trauma, and excessive bleeding during interventional procedures are the principal manifestations [2, 4]. Here we have reviewed the process of diagnosing a case of such rare disorder in Apollo Hospitals Dhaka. We have also highlighted the treatment and management plan of such a case.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6964Pulse Vol.4 January 2010 p.34-35

scholarly journals Medulloblastoma in Adulthood

2021 ◽  
Vol 26 (3) ◽  
pp. 52-54
Author(s):  
Dragoş Horşia
Keyword(s):  
Genetic Factor ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Histopathological Examination ◽  
Intracranial Tumours ◽  
Harvey Cushing ◽  
Tumour Formation ◽  
Childhood Medulloblastoma ◽  
Patient’S History ◽  
Malignancy Potential

Abstract Defined as a tumour with increased malignancy potential in childhood, medulloblastoma was first reported in the literature by Percival Bailey and Harvey Cushing in 1925. Scientific studies over the years have shown that this type of tumour represents about 20% of all intracranial tumours encountered in childhood, their percentage decreasing with advancing age. The genetic factor plays an important part in the appearance of medulloblastoma; there are certain diseases, in the patient’s history, that can be associated with this type of tumour. Here, we can specify Turcot syndrome (an autosomal recessive disease, rarely encountered) or basal cell carcinoma syndrome. This article presents the case of a young patient (41-year-old) suffering from a cerebellar tumour formation that turned out to be, after histopathological examination, a medulloblastoma. In practice we can find several types of medulloblastoma (desmoplastic or nodular, anaplastic, classical or undifferentiated). In what follows I will try to highlight a few aspects of a classic medulloblastoma.

scholarly journals Therapeutic guidelines for the treatment of cystic fibrosis

Pharmacia ◽  
2021 ◽  
Vol 68 (1) ◽  
pp. 151-154
Author(s):  
Maria Becheva ◽  
Petar Atanasov
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Evaluations ◽  
Number Of Patients ◽  
Therapeutic Guidelines ◽  
Therapeutic Measures ◽  
One Year ◽  
Respiratory Rehabilitation

Cystic fibrosis (CF) is a complex, systemic autosomal recessive disease that affects the functions of the respiratory system, the digestive tract and all exocrine glands. The frequency for Europe averages 1: 2500 to 1: 3500 live births. The total number of patients with cystic fibrosis in Bulgaria is about 180. About 10% of the patients are diagnosed at birth. About 60–70% of patients are diagnosed before they reach one year of age. Respiratory symptoms predominate in the clinical picture in patients with cystic fibrosis and determine the prognosis in more than 90% of the patients. The treatment of patients with cystic fibrosis is strictly individualized, pharmacological and non-pharmacological and requires a comprehensive therapeutic approach. The complex therapy also includes bronchodilators, NSAIDs, corticosteroids, respiratory rehabilitation in combination with general body massage. Continued courses of broad-spectrum antibiotics are required to suppress chronic infection. With the progression of the disease, complications such as atelectasis, pneumothorax and pulmonary hemorrhages are observed. The establishment of specialized centers with trained and experienced professionals is essential in order to provide optimal patient care. These include frequent clinical evaluations, follow-up of complications, and early interventions for the treatment of patients with cystic fibrosis. The aim of the article is to familiarize the audience with the therapeutic measures applied in the treatment of patients with cystic fibrosis.

Pyloroduodenal Atresia (Diaphragm Type): An Autosomal Recessive Disease

PEDIATRICS ◽  
1978 ◽  
Vol 62 (3) ◽  
pp. 419-421
Author(s):  
Henry C. Mishalany ◽  
Ziad H. Idriss ◽  
Vazken M. Der Kaloustian
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Single Individual ◽  
Autosomal Recessive Mode ◽  
Genetic Etiology ◽  
New Evidence ◽  
Mode Of Inheritance

In 1970,1 1971,2 and 19743 we described two families, each with two siblings who had atresia of the first portion of the duodenum. The four patients were first cousins to each other. We suggested a genetic etiology with an autosomal recessive mode of inheritance, which has been accepted.4 The source of the proposed gene for both families was traced to a single individual. Recently, a third family, linked to the previous two with strong consanguineous ties, had a pair of twins affected with the same anomaly. The purpose of this article is to bring the weight of new evidence afforded by this third family to further substantiate the genetic etiology of this condition.

scholarly journals Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 715 ◽  
Author(s):  
Sugiyama ◽  
Moteki ◽  
Kitajiri ◽  
Kitano ◽  
Nishio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Copy Number Variations ◽  
Clinical Feature ◽  
Single Nucleotide Variants ◽  
Characteristic Clinical Feature ◽  
Or Gene ◽  
Homozygous Deletions

The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion.

scholarly journals A case of Shwachman-Diamond syndrome distinguished from celiac disease

2012 ◽  
Vol 4 (3) ◽  
pp. 30 ◽  
Author(s):  
Shin-ichiro Hagiwara ◽  
Arata Watanabe
Keyword(s):  
Bone Marrow ◽  
Celiac Disease ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
First Case ◽  
Pancreatic Dysfunction ◽  
Shwachman Diamond Syndrome

Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.

scholarly journals A substrate binding model for the KEOPS tRNA modifying complex

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Jonah Beenstock ◽  
Samara Mishelle Ona ◽  
Jennifer Porat ◽  
Stephen Orlicky ◽  
Leo C. K. Wan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Trna Modification ◽  
Binding Model ◽  
Binding Surface ◽  
Trna Substrate ◽  
Trna Binding ◽  
Keops Complex

AbstractThe KEOPS complex, which is conserved across archaea and eukaryotes, is composed of four core subunits; Pcc1, Kae1, Bud32 and Cgi121. KEOPS is crucial for the fitness of all organisms examined. In humans, pathogenic mutations in KEOPS genes lead to Galloway–Mowat syndrome, an autosomal-recessive disease causing childhood lethality. Kae1 catalyzes the universal and essential tRNA modification N6-threonylcarbamoyl adenosine, but the precise roles of all other KEOPS subunits remain an enigma. Here we show using structure-guided studies that Cgi121 recruits tRNA to KEOPS by binding to its 3’ CCA tail. A composite model of KEOPS bound to tRNA reveals that all KEOPS subunits form an extended tRNA-binding surface that we have validated in vitro and in vivo to mediate the interaction with the tRNA substrate and its modification. These findings provide a framework for understanding the inner workings of KEOPS and delineate why all KEOPS subunits are essential.

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