Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The objective of this study was to evaluate the clinical and endocrine profile of patients with precocious puberty followed up in a tertiary care hospital. Records of 140 patients (114 girls, 26 boys) with precocious puberty were reviewed. Clinical features including age of onset, stage of pubertal development, presenting symptoms, features suggestive of CNS involvement and family history were analyzed. Endocrine investigations included basal and GnRH-stimulated levels of LH and FSH as well as 17OHP, DHEA, hCG and thyroid profile. Abdominal and pelvic ultrasonography and CNS imaging were correlated with clinical features. Girls outnumbered boys in this series (4.4:1). Neurogenic central isosexual precocious puberty (CIPP) was more common in boys (10 out of 18, 55.6%) than girls (16 out of 77, 20.8%). The most common cause of neurogenic CIPP was hypothalamic hamartoma present in five girls and four boys. Other causes of neurogenic CIPP included neurotuberculosis, pituitary adenoma, hydrocephalus, post radiotherapy, CNS tumors and malformations. Peripheral precocious puberty (PPP) was secondary to adrenal causes in boys and ovarian cysts in girls. Benign variants of precocious puberty, such as premature thelarche and premature adrenarche, were present in 23 and six girls, respectively. Hypothyroidism was present in four girls and McCune-Albright syndrome in one girl. Girls with neurogenic CIPP had a lower age of onset as compared to idiopathic CIPP (3.6 +/- 2.7 years vs 5.4 +/- 2.5 years, p = 0.014). The lowest age of onset was seen in girls with hypothalamic hamartoma (1.6 +/- 0.9 years). Forty-seven girls with CIPP (seven neurogenic and 40 idiopathic) presented after the age of 6 years. Features of CNS involvement, in the form of seizures, mental retardation, raised intracranial tension or focal neurological deficits, were present in seven girls (43.8%) and four boys (40%), and gelastic seizures were present in three children. Girls with CIPP had greater bone age advancement (3.4 +/- 1.5 years) and negative height standard deviation for bone age (-2.7 +/- 1.5) than those with PPP (1.9 +/- 1.6 years and -1.3 +/- 1.3) and premature thelarche (0.4 +/- 0.4 years and -0.8 +/- 0.8). Patients with neurogenic CIPP had significantly higher levels of baseline and GnRH-stimulated levels of LH and FSH and LH:FSH ratio than those with idiopathic CIPP. Occurrence of neurogenic CIPP in seven girls with an age of onset after 6 years emphasizes the need for CNS imaging in these girls contrary to the current recommendations. The fact that 65.6% cases of idiopathic CIPP presented after the age of 6 years raises the possibility that these patients may be physiological variants of normal puberty. Pointers to neurogenic CIPP included early age of onset in girls, clinical features of CNS involvement, and elevated basal and stimulated LH levels and LH:FSH ratio.
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PMID:Precocious puberty: clinical and endocrine profile and factors indicating neurogenic precocity in Indian children. 1238 16

Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a rare disease, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To our knowledge, no cases of Evans syndrome have been observed associated with pseudohypoparathyroidism 1a.
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PMID:Pseudohypoparathyroidism Ia with Evans syndrome. 1879 44

Albright hereditary osteodystrophy (AHO), also known as Martin-Albright syndrome (MAS), is a rare autosomal dominantly transmitted disease characterized by short stature, obesity, mental retardation, a round facies, and brachymetacarpia and -tarsia, as well as cutaneous calcification. The disease is caused by mutations in the GNAS gene localized on chromosome 20q13.2 encoding for an adenyl-cyclase-stimulating protein (Gsalpha). A 58-year-old patient presented with small stature since childhood, moderate mental retardation, round facies and soft tissue masses on the thighs. A biopsy of the latter showed subcutaneous ossification. Laboratory results showed hypocalcemia, as well as increased plasma levels of PTH and calcitonin. The clinical diagnosis was confirmed by detection of reduced activity of Gsalpha. In patients with cutaneous calcification and disturbed calcium metabolism, AHO is an important differential diagnostic consideration.
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PMID:First diagnosis of Martin-Albright syndrome in a 58-year-old patient. 1913 95

Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to the silencing of the X-linked Fragile X Mental Retardation 1 gene encoding the RNA-binding protein FMRP. While extensive studies have focused on the cellular and molecular basis of FXS, neither human Fragile X patients nor the mouse model of FXS--the Fmr1-null mouse--have been profiled systematically at the metabolic and neurochemical level to provide a complementary perspective on the current, yet scattered, knowledge of FXS. Using proton high-resolution magic angle spinning nuclear magnetic resonance ((1)H HR-MAS NMR)-based metabolic profiling, we have identified a metabolic signature and biomarkers associated with FXS in various brain regions of Fmr1-deficient mice. Our study highlights for the first time that Fmr1 gene inactivation has profound, albeit coordinated consequences in brain metabolism leading to alterations in: (1) neurotransmitter levels, (2) osmoregulation, (3) energy metabolism, and (4) oxidative stress response. To functionally connect Fmr1-deficiency to its metabolic biomarkers, we derived a functional interaction network based on the existing knowledge (literature and databases) and show that the FXS metabolic response is initiated by distinct mRNA targets and proteins interacting with FMRP, and then relayed by numerous regulatory proteins. This novel "integrated metabolome and interactome mapping" (iMIM) approach advantageously unifies novel metabolic findings with previously unrelated knowledge and highlights the contribution of novel cellular pathways to the pathophysiology of FXS. These metabolomic and integrative systems biology strategies will contribute to the development of potential drug targets and novel therapeutic interventions, which will eventually benefit FXS patients.
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PMID:A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model. 2190 Mar 87