Comparative assessment of effect of malt with different bud length on prolactin in hyperprolactinemia rat

Malt is the mature fruit of Hordeum vulgare L. after germination and drying and has been applied for treatment female abnormal galactorrhea. Previous studies have showed total alkaloids in malt have anti-HPRL effect. However, total alkaloids of malt change with the growth cycle, and the specified levels of total alkaloids in different bud length of malt have not been decided. To determine the definitive level of total alkaloids in different buds of malt and the most suitable bud length for clinical application by comparing effects on hyperprolactinemia rat. During the budding of malt, the content of total alkaloids first increased and then decreased, and it peaked at a bud length of 0.75 cm. Treated the HPRL model rats with different buds of malt, the PRL level was decreased, the number of PRLpositive cells and the mRNA expression level in the pituitary were significantly declined, and the number of dopamine D1 and D2 receptors in the hypothalamus was increased. The above changes were most significant in 0.75 cm bud. These results suggest that in terms of the content of effective substance and the effects on HPRL model rats, a malt bud length of 0.75 cm is optimal for clinical application.

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous). The patients' father was heterozygous for the mutation. Patient 3 was a female infant, showed respiratory difficulty reflecting pulmonary hypoplasia, generalized hypotonia, feeding difficulty and multiple anomalies soon after birth. Targeted next-generation sequencing detected a novel heterozygous mutation in MAGEL2 (c.3131C>A, p.Ser1044*). This mutation was not found in the parents. MAGEL2 mutations, first reported to be the cause of the Prader-Willi like syndrome with autism by Schaaf et al. (2013) Nature Genetics, 45: 1405-1408 show the wide range of phenotypic spectrum from lethal arthrogryposis multiplex congenital to autism spectrum disorder (ASD) and mild intellectual disability (ID). Our results indicate that MAGEL2 mutations cause multiple congenital anomalies and intellectual disability accompanied by arthrogryposis multiplex congenita and various endocrinologic abnormalities, supporting that the view that clinical phenotypes of MAGEL2 mutations are variable.

An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.

Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick R272Q homozygous mutations die at birth due to respiratory distress. Ick mutant lungs exhibit not only impaired branching morphogenesis associated with reduced mesenchymal proliferation but also significant airspace deficiency in primitive alveoli concomitant with abnormal interstitial mesenchymal differentiation. ICK dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome.

Effects of early-developmental stress on growth rates, body composition and developmental plasticity of the HPG-axis.

In altricial songbirds, food restriction in early development has adverse effects on various physiological systems. When conditions improve birds can accelerate growth, but this compensatory strategy is associated with long-term adverse consequences. One system affected by altered growth rates is the hypothalamic-pituitary-gonadal (HPG) axis. Here, we subjected European starlings, Sturnus vulgaris, to an unpredictable food manipulation from 35 to 115days of age. We assessed the effects of the treatment by measuring overall body mass and body composition during and following the treatment period (i.e., accelerated growth). In adulthood, we measured the long-term effects of the treatment on overall body mass, testis volume, and HPG axis function in both sexes by quantifying androgen levels before and after a gonadotropin-releasing hormone (GnRH) challenge. During the treatment period, treatment birds had less body fat than controls. Following the treatment period, treatment birds weighed more than controls, but these gains were attributed to changes in lean mass. In adulthood, treatment males had lower baseline androgen levels, but there was no difference in peak androgen levels compared to controls. Treatment females did not differ from controls on any of the androgen measures. However, females that accelerated growth faster following the termination of the treatment had lower integrated androgen levels. When faced with limited developmental resources, birds may alter the developmental trajectory of physiological systems as a compensatory strategy. Such a strategy may have long-term consequences on endocrine regulation that could affect courtship and reproductive behaviors.

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Genitopatellar syndrome (GPS) is a rare disorder with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation. Twelve patients with ages from 15 days to 12 years and two affected fetuses have been reported. We describe a 17-year-old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manifestations of GPS.

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

We report on two children from an inbred Arab family with anterior segment anomalies of the eyes, growth retardation, associated with small pituitary gland, and endocrine abnormalities. The features in the sibs in this report are similar to those described in Peters-plus syndrome. However, small pituitary gland associated with growth hormone deficiency has not been reported in Peters-plus syndrome. In addition, sequencing of the B3GALTL gene, the gene implicated in Peters-plus syndrome did not reveal any mutation in the sibs reported here. The association of anterior segment anomalies of the eye, growth retardation, and endocrine problems has previously been described by Jung et al. in 1995. We suggest that the features in the children in this report could represent variable manifestation of this syndrome or previously not described syndrome.

Alteraciones endocrinas y metabólicas en el adolescente / No disponible

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Manifestaciones satélites de las enfermedades internas / Satellite manifestations of internal diseases

Objetivos. Definir el concepto de manifestaciones satélites (MS) y determinar que número y tipos de ellas aparecen en las enfermedades de cada una de las subespecialidades de la Medicina Interna. Método: Se revisan 290 enfermedades en tratados de Medicina Interna y de especialidades y en cada una de ellas se describen los tipos de MS que presentan. Resultados: Las enfermedades respiratorias son las que mas MS presentan y las que menos las neurológicas. El tipo mas frecuente de MS es dermatológico. Las enfermedades que más variedad tienen de tipos de MS son las endocrinas. Analizando los porcentajes de cada tipo de MS en relación con el número de enfermedades de cada grupo, los mas altos son de MS dermatológicas en enfermedades cardiacas. Conclusiones: Las MS son un fenómeno muy frecuente en la clínica médica actual y expresan el carácter holístico de la enfermedad. Su conocimiento es imprescindible en la clínica internista y subespecializada, donde pueden suponer una ayuda diagnostica, aunque un mal conocimiento de su realidad pueden significar lo contrario

Aims: Define the concept of satellite manifestations (SM) and to determine the number and types of them that appear in the diseases of each one of the subspecialities of the Internal Medicine. Methods: 290 diseases are reviewed in agreements of Internal Medicine and specialities books and in each one are described the types of SM that they present. Results: The respiratory diseases are the group that more SM presents and the less one the neurological. The most frequent type of SM are dermatological. The diseases that have more variety of types of SM are the endocrinologicals. Analyzing the percentages of every type of SM in relation with the number of diseases of every group, the highest are the dermatological SM in cardiac diseases. Conclusions: The SM are a very frequent phenomenon in the current medical practice and express the holistic character of the disease. His knowledge is indispensable in the internal medicine and subspecialities, where they can suppose a help in the diagnoses, though a bad knowledge of his reality can mean the opposite

Age-related endocrine dysfunction in nonhuman primates.

Peculiarities of functioning of some parts of the endocrine system (the pineal gland, pancreatic gland, hypothalamic-pituitary-adrenal axis, and hypothalamic-pituitary-testicular axis) in an aging nonhuman primate model (Papio hamadryas and Macaca mulatta) are described in this article. It has been established that basal activity of some endocrine functions (glucocorticoid, corticotropic, pancreatic, male estradiol producing) varies little with age. Other functions significantly decrease (DHEA/DHEAS-producing, pineal, testicular) or increase (male gonadotropic) with age. In contrast with basal activity, pronounced age-related changes in response to specific stimuli were detected in all endocrine functions. Old baboons and rhesus monkeys exhibited a delay of the normalization of the pituitary-testicular axis, adrenal cortex, and pancreatic gland function after their activation in response to specific stimuli, such as LHRH, CRH, ACTH, and glucose. Old monkeys also demonstrate decreased HPA axis sensitivity to glucocorticoid regulation by negative feedback and the HPT axis to inhibitory effect of prolonged administration of LHRH agonist. Age-related changes in reactions of endocrine functions in response to specific stimulating and inhibiting stimuli indicate impaired resiliency of these functions. Age-related endocrine changes perhaps play a pathophysiological role in age function disorders of hormonocompetent tissues and organs and age pathology.

Phenotypic and molecular variability of the holoprosencephalic spectrum.

Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations.

Gonadotrophin regimens and oocyte quality in women with polycystic ovaries.

The systemic endocrine environment during the later stages of follicle development has a crucial role in co-ordinating follicular and oocyte maturation before ovulation. Polycystic ovary syndrome (PCOS) is associated with abnormal circulating hormones, abnormal peri-follicular vascularity and significant abnormalities of granulosa cell function. After induction of ovulation, fertilization rates in vivo in women with PCOS are normal, but there is an increased risk of early pregnancy loss, particularly in obese patients. After in-vitro maturation of oocytes or following ovulation induction for IVF, oocyte and embryo quality in vitro are not obviously impaired in PCOS. In some reports however, specific endocrine abnormalities, such as hyperinsulinaemia/insulin resistance, have been noted to be associated with reduced fertilization rates and abnormal early embryonic development.

Endocrine abnormalities in Anorexia Nervosa.

Anorexia Nervosa (AN) is a psychiatric disorder characterized by the classic triad: amenorrhea, weight loss, and behavioral changes. It is generally seen in young, white women under 25 and is particularly common in adolescence. The mortality of the disease varies between 5.1% and 13%. The endocrine changes associated with AN have been studied in depth and provide strong evidence for hypothalamic dysfunction. All are secondary and reverse with weight gain. In general, gonadotropin (FSH, LH) levels are decreased in patients with AN, as well as the response to Gonadotropin releasing hormone (GnRH). Fasting growth hormone levels are elevated, but the stimulated response of Growth hormone (GH) to Growth hormone releasing hormone (GHRH) is normal and inversely correlated to body weight. Serum Growth hormone binding protein (GHBP), insulin growth factor I (IGF-I) and IGF binding protein (IGFBP) - 3 levels are all significantly decreased in patients with AN and return to normal with refeeding. IGFBP-1 and 2 are increased and return also to normal with weight gain. Serum IGF-II is decreased but not significantly. The IGFBP-3 proteolytic activity is normal. Thyroxine (T4) and Triiodothyronine (T3) while reverse T3 (rT3) is elevated. Thyrotropin stimulating hormone (TSH). TSH levels are normal with a delayed response to thyrotropin releasing hormone (TRH). Cortisol levels are normal or elevated as well as urinary free cortisol. Corticotropin (ACTH) levels are normal with decreased response to Corticotropin releasing hormone (CRH). Dexamethasone suppression test is abnormal. Sex steroids are decreased. Finally leptin levels are decreased in patients with AN while ghrelin levels are elevated. Both leptin and ghrelin levels return to control values after renutrition.

Endocrine disruptors: from Wingspread to environmental developmental biology.

The production and release of synthetic chemicals into the environment has been a hallmark of the "Second Industrial Revolution" and the "Green Revolution." Soon after the inception of these chemicals, anecdotal evidence began to emerge linking environmental contamination of rivers and lakes with a variety of developmental and reproductive abnormalities in wildlife species. The accumulation of evidence suggesting that these synthetic chemicals were detrimental to wildlife, and potentially humans, as a result of their hormonal activity, led to the proposal of the endocrine disruptor hypothesis at the 1991 Wingspread Conference. Since that time, experimental and epidemiological data have shown that exposure of the developing fetus or neonate to environmentally-relevant concentrations of certain synthetic chemicals causes morphological, biochemical, physiological and behavioral anomalies in both vertebrate and invertebrate species. The ubiquitous use, and subsequent human exposure, of one particular chemical, the estrogen mimic bisphenol A (BPA), is the subject of this present review. We have highlighted this chemical since it provides an arresting model of how chemical exposure impacts developmental processes involved in the morphogenesis of tissues and organs, including those of the male and female reproductive systems, the mammary glands and the brain.

Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A).

Synaptic vesicle protein 2 (SV2) is a membrane glycoprotein common to all synaptic and endocrine vesicles. Unlike many proteins involved in synaptic exocytosis, SV2 has no homolog in yeast, indicating that it performs a function unique to secretion in higher eukaryotes. Although the structure and protein interactions of SV2 suggest multiple possible functions, its role in synaptic events remains unknown. To explore the function of SV2 in an in vivo context, we generated mice that do not express the primary SV2 isoform, SV2A, by using targeted gene disruption. Animals homozygous for the SV2A gene disruption appear normal at birth. However, they fail to grow, experience severe seizures, and die within 3 weeks, suggesting multiple neural and endocrine deficits. Electrophysiological studies of spontaneous inhibitory neurotransmission in the CA3 region of the hippocampus revealed that loss of SV2A leads to a reduction in action potential-dependent gamma-aminobutyric acid (GABA)ergic neurotransmission. In contrast, action potential-independent neurotransmission was normal. Analyses of synapse ultrastructure suggest that altered neurotransmission is not caused by changes in synapse density or morphology. These findings demonstrate that SV2A is an essential protein and implicate it in the control of exocytosis.