Read by QxMD icon Read

Rare disorders

Ülkü Gül Şiraz, Deniz Okdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendırcı, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Syed M Hasan, Nida N Ahmed, Zunirah Ahmed, Allan Seibert
Amyloidosis is a rare disorder with a wide spectrum of presentations and anomalies. It is subdivided into 2 broad categories based on protein deposition; primary and secondary amyloidosis. It can present as a single-organ involvement or as a diffuse infiltrative multi-organ process. Isolated hepatic amyloidosis presentation is a rare phenomenon that develops due to insoluble amyloid deposition in liver. Its clinical presentation is usually vague and ranges from mild hepatomegaly with elevated liver enzymes to acute liver failure and hepatic rupture...
January 2018: Journal of Investigative Medicine High Impact Case Reports
Kumar Narahari Narahari, Anu Kapoor, Sarat Kumar Sanamandra, Surya Ramachandra Varma Gunturi
Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis...
January 2018: International Journal of Applied and Basic Medical Research
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
Francisco Galeano-Valle, Pablo Demelo-Rodriguez, Luís Álvarez-Sala-Walther, Blanca Pinilla-Llorente, Miguel Jesús Echenagusia-Boyra, Hugo Rodriguez-Abella, Jorge Del-Toro-Cervera
Behçet's Disease (BD) is a rare multi-systemic inflammatory disorder classified as a systemic vasculitis of unknown aetiology. Vascular involvement occurs in approximately 5-51.6% cases, affecting venous and arterial vessels. Cardiac involvement is rare in BD (6%). There have been published approximately 93 cases of BD associated with intracardiac thrombosis, with different treatments and courses. We present a case of a 35-year-old spanish male that, after a percutaneous pharmacomechanical thrombectomy with venous stent placement, developed high fever and extensive venous thrombosis despite anticoagulation including intracardiac thrombosis (ICT) in the right ventricle and pulmonary embolism that leaded to the diagnosis of BD...
February 2018: Intractable & Rare Diseases Research
Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An, Hong Xu
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene ( EYA1 ) are the most common cause of BOR syndrome. PCR and direct sequencing were used to investigate all of the exons and exon-intron boundaries in the EYA1 gene in a patient with BOR syndrome from China. The patient was a child who displayed clinical features of BOR syndrome...
February 2018: Intractable & Rare Diseases Research
Yanqin Lu, Yanzhou Wang, Frank Rauch, Hu Li, Yao Zhang, Naixiang Zhai, Jian Zhang, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers...
February 2018: Intractable & Rare Diseases Research
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 ( TREM2 ) or TYRO protein tyrosine kinase binding protein ( TYROBP ), alternatively named DNAX-activation protein 12 ( DAP12 ), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. TREM2 transmits the signals involved in microglial survival, proliferation, chemotaxis, and phagocytosis...
February 2018: Intractable & Rare Diseases Research
Yanqin Lu, Yunzhang Dai, Yanzhou Wang, Naixiang Zhai, Jian Zhang, Junlong Liu, Xiaoli Yin, Tianyou Li, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cause either autosomal-recessive OI or dominantly inherited early-onset osteoporosis. Here we describe a 32-year-old boy with severe osteopenia and deformity of the extremities. The relative long thumb and ring finger are obvious. We identified a novel combination of complex heterozygous WNT1 mutation of c...
February 2018: Intractable & Rare Diseases Research
Naixiang Zhai, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
Circular RNA (circRNA) is a non-linear form of RNA derived from exonic, intronic, and exon-intron gene regions. circRNAs are characterized by covalent closed loops, highly stable nuclease resistance, and specific expression in species and developmental stages. CircRNA molecules have been identified as playing roles in the regulation of cell transcription, transcriptional expression after translation, interactions with microRNAs, and protein coding. A high stability and tissue- and disease-specific expression allow circRNAs to serve as potential biomarkers both for diseases and prognosis...
February 2018: Intractable & Rare Diseases Research
Franchesca Cruz-Pérez, Salvador Vilá, Grissel Ríos, Luis M Vilá
Macrophage-activating syndrome (MAS) is a rare condition characterized by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leukocytes, and platelets. MAS is associated with infectious diseases, malignancies, and autoimmune rheumatic disorders. Herein, we present a 22-year-old Hispanic woman with SLE who was hospitalized because of a three-week history of fever, fatigue, polyarthralgia, nausea, and abdominal pain. Initial laboratories showed severe pancytopenia with marked elevation of liver enzymes and ferritin levels...
2018: Case Reports in Rheumatology
Festi Lova, Manoj Vengal, Auswaf Ahsan, Ashir Kr, Tim Peter, Hamesh Gangadharan
Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. Its etiology and ideal management strategy are still an enigma. A case of Gorham disease involving the maxillofacial region in a 25-year-old male with an emphasis on etiology and diagnosis is discussed.
February 2018: Radiology Case Reports
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
Kyung Won Doo, Bomi Kim
Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.
February 2018: Radiology case reports
Marta Zamarbide, Adam W Oaks, Heather L Pond, Julia S Adelman, M Chiara Manzini
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a -deficient mice present with cognitive and social deficits, hyperactivity and anxiety...
2018: Frontiers in Genetics
Joshua T Byers, Xin Qing, Christopher Lo, Samuel W French, Ping Ji
Amyloidosis is a disorder characterized by the deposition of insoluble abnormal proteins in the extracellular space. It may occur as a localized lesion or as a systemic disease involving multiple organs and systems. Localized conjunctival amyloidosis is rare and is less frequently associated with systemic involvement. Although amyloidosis itself is a benign lesion involvement of multiple organs and systems is associated with poor prognosis. Diagnosis of amyloidosis is made on biopsy specimens with Congo red staining for the appearance of apple-green birefringence under polarized light microscopy...
March 15, 2018: Experimental and Molecular Pathology
Alexandra Shadrina, Yakov Tsepilov, Ekaterina Sokolova, Mariya Smetanina, Elena Voronina, Eugene Pakhomov, Kseniya Sevost'ianova, Andrey Shevela, Evgeny Ilyukhin, Evgeny Seliverstov, Igor Zolotukhin, Maxim Filipenko
Heredity is a well-known risk factor for varicose veins, but genetic basis of this condition remains poorly studied. Our aim was to conduct a large-scale genetic association study for primary varicose veins (PVVs) in the population of ethnic Russians. An initial scan using Illumina HumanExome-12 v1.0 BeadChip was performed for 273 patients with PVVs and 250 controls without a history of chronic venous disease and other venous disorders. After quality control and removal of monomorphic markers, 25,424 common and 48,232 rare variants were included in the analysis...
March 15, 2018: Gene
Nabeel Alshafai, Rodolfo Maduri, Mrigank Shail, Domenico Chirchiglia, David Meyronet, Francesco Signorelli
Hemangioblastomas (HBLs) are challenging vascular tumours with rare suprasellar location Surgery is recommended in patients with visual impairment, endocrine disorders or hydrocephalus. Surgical removal of pituitary stalk HBLs is challenging due to their location and high vascularity. Our narrative review was guided by the question: "what is the more suitable surgical approach to excise a suprasellar HBL?". Pertinent English literature was scrutinized from database inception to October 2016. Eighteen articles matched our selection criteria...
March 10, 2018: Clinical Neurology and Neurosurgery
Francesco Bellomo, Anna Signorile, Grazia Tamma, Marianna Ranieri, Francesco Emma, Domenico De Rasmo
Nephropathic cystinosis (NC) is a rare disease caused by mutations in the CTNS gene encoding for cystinosin, a lysosomal transmembrane cystine/H+ symporter, which promotes the efflux of cystine from lysosomes to cytosol. NC is the most frequent cause of Fanconi syndrome (FS) in young children, the molecular basis of which is not well established. Proximal tubular cells have very high metabolic rate due to the active transport of many solutes. Not surprisingly, mitochondrial disorders are often characterized by FS...
March 16, 2018: Cellular and Molecular Life Sciences: CMLS
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"