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Domingos Fernando F Institute of Physiology, Faculty of Medicine, University of Lisbon , Lisbon , Portugal , - - 2014
Abstract Kidney stones and metabolic syndrome (MetS) are common conditions in industrialized countries. There is growing evidence of associations between kidney stone disease and MetS or some of its components. The link between uric acid stones and MetS is well understood, but the link with calcium oxalate (CaOx) stones, the ...
Vinkler Chana C Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address: - - 2014
Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly ...
Overvad S S Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, - - 2014
Klinefelter syndrome (KS) is characterized by infertility and hypogonadism associated with increased prevalence of osteoporosis, diabetes and metabolic syndrome. Insulin-like factor 3 (INSL3) is produced in the Leydig cells. INSL3 has been suggested to play a role in bone health. Here, we studied INSL3 in relation to bone markers, body ...
Baiocchi Michela M Pediatrics Clinic of Brescia, Brescia, - - 2014
Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, ...
Qiu W - - 2014
The ubiquitous non-receptor protein tyrosine phosphatase SHP2 (encoded by PTPN11) plays a key role in RAS/ERK signaling downstream of most, if not all growth factors, cytokines and integrins, although its major substrates remain controversial. Mutations in PTPN11 lead to several distinct human diseases. Germ-line PTPN11 mutations cause about 50% of ...
El Kholy Mohamed M Paediatrics Department, Ain Shams University, Cairo, - - 2014
Background/Aim: Growth hormone insensitivity syndrome (GHIS) is a spectrum of disorders. Laron syndrome was the earliest discovered. Insulin-like growth factor 1 (IGF-1) therapy is used to improve growth. IGF-1 has diverse effects on the growth of body organs. We aim to assess the long-term effects of IGF-1 therapy in patients ...
Hernández-Hernández Tania T Posgrado en Ciencias Biológicas, Instituto de Biología, Universidad Nacional Autónoma de México, 3er Circuito de Ciudad Universitaria, Del. Coyoacán, México D.F, 04510, - - 2014
Succulent plants are widely distributed, reaching their highest diversity in arid and semi-arid regions. Their origin and diversification is thought to be associated with a global expansion of aridity. We test this hypothesis by investigating the tempo and pattern of Cactaceae diversification. Our results contribute to the understanding of the ...
Varghese P P Cardiovascular Unit, Division of Medicine, John Hunter Hospital, New Lambton, NSW, - - 2014
Yunis-Varon syndrome is a rare autosomal recessive condition initially characterized by specific skeletal and ectodermal abnormalities, and a poor prognosis, due to neurological and cardiovascular involvement. We describe the cardiovascular and endocrine complications in a 26-year-old man who had been reported previously, adding dilated cardiomyopathy to the clinical features consistent ...
Régal Luc L From the Center of Human Genetics (L.R., J.W.M.C., S.M.), Laboratory of Biochemical Neuroendocrinology, KU Leuven; Department of Pediatrics and Pediatric Metabolic Disorders (C.V.), University Hospital Leuven, Belgium; and Department of Neurology (X.-M.S., D.S., A.G.E.), Mayo Clinic, Rochester, - - 2014
To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated neuromuscular transmission in vitro in a patient with isolated PREPL deficiency, and evaluated the effect of ...
Sıklar Zeynep Z Ankara University School of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey. E-ma-il: - - 2014
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature ...
Celik Nurullah N Gazi University Medical Faculty, Department of Pediatric Endocrinology, Ankara, Turkey. E-ma-il: - - 2014
Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic ...
de Jong Tjeerd R TR Department of Plastic and Reconstructive Surgery and Hand Surgery, Isala Klinieken, Zwolle, Netherlands. Electronic address: - - 2014
We present 2 siblings with multiple complete pseudoepiphyses in their hands and feet with associated symptomatic enhanced growth. Physical examination of the 6-year-old boy revealed long slender fingers and hyperplastic great toes. Radiography showed complete pseudoepiphyses in the first metacarpals, proximal and middle phalanges of the hands, and proximal phalanges ...
Christens Anja A Department of Pediatrics, University Hospitals Leuven , Leuven , Belgium - - 2014
Abstract An 8-year-old girl presented with precocious menstruation and growth delay. Laboratory data revealed hypothyroidism and an X-ray of the wrist showed a delayed bone age. The Van Wyk and Grumbach syndrome (VWGS) was diagnosed and thyroid replacement was started with resolution of the symptoms. The association of precocious puberty ...
Elmakky Amira A Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, - - 2014
Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, ...
Calvieri S S Department of Internal Medicine and Medical Specialties, Unit of Dermatology Sapienza University, Rome, Italy - - - 2014
Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. These alterations may be associated with a larger array of symptoms, as mentioned above, or may occur isolated. The number of genes involved and their penetration are responsible for the ...
Ruggieri Martino M Department of Educational Sciences, Chair of Pediatrics, University of Catania, Catania, Italy; Unit of Neurosurgery, Department of Neurosciences, University of Catania, Catania, - - 2014
Klippel-Trenaunay syndrome comprises congenital vascular malformations of the capillary (nevus flammeus), venous (varicosities) or lymphatic systems and disturbed (usually over-) growth of one or more extremities and adjacent parts of the trunk. In some individuals the affected body area may show reduced rather than increased growth. Such patients have been ...
Cho Sung Yoon SY Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine, Guri, - - 2014
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT ...
Nso-Roca Ana Pilar - - 2014
Abstract 12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental retardation and short stature but without osteopoikilosis. ...
Zmolikova Michaela M Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech - - 2014
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed ...
Shon W W University of Florida College of Medicine, Department of Pathology, Immunology, and Laboratory Medicine, PO Box 100275, 32610, Gainesville, Florida, United - - 2014
PTEN (phosphatase and tensin homolog) acts as a tumor suppressor to monitor cellular growth and survival via the P13K/AKT signaling pathway. Cowden syndrome (CS) is an autosomal dominant disorder that belongs in the family of PTEN hamartoma syndromes. Patients typically develop multiple cutaneous trichilemmomas and other papillomatous papules, which usually ...
Platt Caroline C Department of Paediatrics, Gloucestershire Royal Hospitals NHS Foundation Trust, Gloucester, - - 2014
We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated with recombinant growth hormone. He later presented acutely with hepatorenal failure and ...
Wheeler Jason B JB Division of Cardiothoracic Surgery, Medical University of South Carolina, Strom Thurmond Research Building, 114 Doughty Street, Suite 326, 250778, Charleston, SC, 29425, - - 2014
Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that cosegregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic root dilatation with regurgitation). This pattern of cardiovascular defects appears to be expressed along a spectrum of severity in many heritable ...
Gaur A A Department of Pediatrics, Gajraraja Medical College and Kamla Raja Hospital, Gwalior, Madhya Pradesh, - - 2014
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman's syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT) in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth ...
Hadipour Zahra Z Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.. - - 2014
The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is ...
Morissette Rachel R The National Institutes of Health, National Institute on Aging, Baltimore, MD, USA; The National Institutes of Health, Clinical Center, Bethesda, MD, USA. Electronic address: - - 2013
Patients with congenital adrenal hyperplasia (CAH) with tenascin-X deficiency (CAH-X syndrome) have both endocrine imbalances and characteristic Ehlers Danlos syndrome phenotypes. Unlike other subtypes, tenascin-X-related Ehlers Danlos syndrome is caused by an extracellular matrix protein deficiency rather than a defect in fibrillar collagen or a collagen-modifying enzyme, and the understanding ...
West E S ES Department of Dermatology, Columbia University Medical Center, New York, - - 2013
Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis, WHIM syndrome, WILD syndrome, severe combined immune deficiency, and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer ...
Lee Marilyn Cheng MC Institute for Women's Health, University College London, London, UK. Electronic address: - - 2014
Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to optimise overall outcome with respect to stature, secondary sex ...
Tabeya Tetsuya - - 2013
We report the case of a 76-year-old man diagnosed with angioimmunoblastic T-cell lymphoma (AITL) with high serum vascular endothelial growth factor (VEGF) preceded by Remitting seronegative symmetrical synovitis with pitting edema syndrome. He suffered respiratory discomfort caused by large amounts of pleural effusion. Interestingly, changes in serum VEGF measured over ...
Bradford Carol M CM Albuquerque BioPark, 903 Tenth Street SW, Albuquerque, New Mexico 87102, USA. - - 2013
A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, ...
Dispenzieri Angela - - 2013
POEMS syndrome is a rare paraneoplastic syndrome that is caused by an underlying plasma cell disorder. Its main features include polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. Other important characteristics of POEMS include papilledema, extravascular volume overload, sclerotic bone lesions, and thrombocytosis/erythrocytosis (PEST). Vascular endothelial growth factor ...
Krejci Pavel - - 2013
Somatic mutations in receptor tyrosine kinase FGFR3 cause excessive cell proliferation, leading to cancer or skin overgrowth. Remarkably, the same mutations inhibit chondrocyte proliferation and differentiation in developing bones, resulting in skeletal dysplasias, such as hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia. A similar phenotype is observed in Noonan syndrome, Leopard ...
Miura Kohji - - 2013
The signal pathway of the C-type natriuretic (CNP) and its receptor, natriuretic peptide receptor 2 (NPR2) is involved in the longitudinal growth of long bones. Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain-of-function mutation at NPR2 have ...
Chowdhury Shimul - - 2013
A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 324-kb critical region was previously identified as the smallest region of overlap (SRO) for ...
Pontes Flávia Sirotheau Corrêa - - 2013
Sturge-Weber syndrome (SWS) is a very rare condition characterized by abnormal vascular formations that encompass several manifestations: cutaneous, neurologic, ocular, and oral. Neurologic conditions are the most important factor, especially epilepsy, which frequently leads patients to make use of anticonvulsants. These drugs are capable of inducing abnormal tissue growth in ...
Shalitin Shlomit - - 2013
Background/Aims: The substantial improvement in survival of children with cancer has been achieved at the cost of late effects. We aimed to evaluate the endocrine outcome in survivors of childhood non-brain malignant solid tumors (NBMST). Methods: We performed a retrospective medical record review for medical history, clinical and laboratory data ...
Horino Satoshi - - 2013
IPEX syndrome is a rare and fatal disorder caused by absence of regulatory T cells (Tregs) due to congenital mutations in the Forkhead box protein 3 gene. Here, we report a patient with IPEX syndrome treated with RIC followed by allogeneic BMT from an HLA-matched sibling donor. We could achieve ...
Yumusakhuylu Ali Cemal - - 2013
This study reports a patient having olfactory neuroblastoma complicated by syndrome of inappropriate antidiuretic hormone secretion. Olfactory neuroblastoma is a rare tumor that begins in the olfactory membrane. Only 10 cases have been reported previously. Because of having nonspecific symptoms, most patients manifest at an advanced stage at the time ...
Caldas Amadeus Lima Rocha AL Health College of Pernambuco, Institute of Integral Medicine, RecifePE, Brazil, MD - Degree in medicine from Health College of Pernambuco - Institute of Integral Medicine (Faculdade Pernambucana de Saúde - Instituto de Medicina Integral Professor Fernando Figueira - FPS-IMIP) - Recife (PE), - - 2013
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months ...
Chhabra N - - 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of the condition. Though much progress has been made to identify the developmental basis of tooth ...
Mazzanti Laura - - 2013
Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the ...
Koçkara Ayşe Şeker - - 2013
Abstract Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, ...
Dixon Jennifer L - - 2013
Neuroendocrine carcinoma of the thymus, previously termed thymic carcinoid, is a rare clinical entity. Rarer still are such cases presenting with endocrinopathies. We report a case of thymic neuroendocrine carcinoma presenting with ectopic adrenocorticotroic hormone production and resultant Cushing's syndrome.
Meguri Kyoko - - 2013
In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated ...
Yamamoto Sayaka - - 2013
Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid ...
Gutch Manish M Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Meerut, Uttar Pradesh, - - 2013
Mauriac syndrome is a rare syndrome associated with type 1 diabetes (T1DM) in children presenting with growth retardation, hepatomegaly, and cushingoid features. Recently, there has been re-emergence of this syndrome, especially with the use of premix insulin. A 15-year old type 1 diabetic boy, who was on premix insulin with ...
Khalid Saifullah S Department of Radiodiagnosis, Jawaharlal Nehru Medical College and Hospital, AMU, Aligarh, Uttar Pradesh, - - 2013
Congenital longitudinal radial deficiency is a rare congenital anomaly and encompasses a spectrum ranging from mild hypoplasia to complete absence of radius. Furthermore known as radial club hand or radial dysplasia, there is variable degree of deficiency along the radial side of the limb. The authors report a case series ...
Pandey Rajeev Kumar RK Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, - - 2013
The Objective of this study was to identify the association of mutation of fibroblast growth factor receptor 1 (FGFR1), FGFR2 genes with syndromic as well as non-syndromic craniosynostosis in Indian population. Retrospective analysis of our records from January 2008 to December 2012 was done. A total of 41 cases satisfying ...
Bista Bibek - - 2013
Cushing syndrome is the constellation of signs and symptoms caused by protracted exposure to glucocorticoids. The most common cause of Cushing syndrome in children and adolescents is exogenous administration of glucocorticoids. Presenting features commonly include weight gain, growth retardation, hirsutism, obesity, striae, acne and hypertension. Almost invariably, linear growth is ...
Ryan Thomas D - - 2013
Russell-Silver Syndrome (RSS) is a genetically determined condition characterized by severe intrauterine and postnatal growth retardation; relative macrocephaly; a small, triangular face; and fifth-finger clinodactyly. The etiology of RSS involves epigenetic regulation through either uniparental disomy or genomic imprinting via DNA methylation. There has been no documented association between RSS ...
Parlak Mesut - - 2013
Abstract Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is ...
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