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1.
Homo ; 57(3): 187-200, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16780842

RESUMO

In this paper, we present a well-preserved isolated human molar found in 1986 in the Hunas cave ruin, south-east Bavaria. The tooth was located at the bottom of layer F2, which belongs to a long stratigraphic sequence comprising faunal remains as well as archaeological levels (Mousterian). A stalagmite from layer P at the base of the stratigraphic sequence was recently dated to 79.373+/-8.237 ka (base) and 76.872+/-9.686 ka (tip) by TIMS-U/Th (Stanford University). We identified the tooth as a right (possibly third) mandibular molar. Characteristic parameters such as crown and root morphology, fissure pattern, enamel thickness, occlusal and interproximal wear, dental dimensions and indices, and radiological features indicate that the Hunas molar represents the tooth of a Neanderthal. This is corroborated by both the palaeontological and archaeological findings (Mousterian) of layer F2.


Assuntos
Determinação da Idade pelos Dentes , Fósseis , Dente Molar/anatomia & histologia , Paleodontologia , Animais , Esmalte Dentário/anatomia & histologia , Esmalte Dentário/diagnóstico por imagem , Oclusão Dentária , Alemanha , História Antiga , Hominidae , Humanos , Dente Molar/diagnóstico por imagem , Atrito Dentário/patologia , Coroa do Dente/anatomia & histologia , Coroa do Dente/diagnóstico por imagem , Raiz Dentária/anatomia & histologia , Raiz Dentária/diagnóstico por imagem
2.
Psychoneuroendocrinology ; 9(2): 179-87, 1984.
Artigo em Inglês | MEDLINE | ID: mdl-6433384

RESUMO

The effect of synthetic LHRH on circulating levels of LH and FSH in three groups of male rats, prepubertal, pubertal and adult, was compared after intravenous, intraperitoneal and subcutaneous administration. In two further series of experiments, infusion of LHRH over 120 min or two i.v. bolus injection at an interval of 60 min were carried out. Blood was collected from individual animals at each time-point before and after LHRH administration. The results indicate that the responsiveness of LH and FSH to LHRH was dependent not only on the routes of injection but also on the maturation of the animals. The infusion of LHRH induced the greatest response of LH and FSH in all the groups of animals. The pubertal group demonstrated greater responsiveness of LH than the other two groups. The second bolus injection of LHRH after 60 min elicited a much greater response for both gonadotropins in all age groups than that following the first injection. This indicates the existence of a priming effect of LHRH on LH and FSH; this effect was observed in all groups irrespective of their maturational status.


Assuntos
Envelhecimento , Hormônio Liberador de Gonadotropina/farmacologia , Animais , Hormônio Foliculoestimulante/sangue , Hormônio Liberador de Gonadotropina/administração & dosagem , Hormônio Luteinizante/sangue , Masculino , Ratos , Maturidade Sexual
3.
J Pediatr Endocrinol Metab ; 8(3): 187-94, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-8521193

RESUMO

We studied the stress hormone response to surgery in 42 infants and children. Plasma levels of the stress hormones ACTH, cortisol, beta-endorphin and arginine-vasopressin (AVP) were determined on three occasions, i.e., one day before surgery, 60 to 90 minutes after skin closure and on the day after surgery (anesthesia by halothane and nitrous oxide). We observed an increase in the levels of both ACTH and cortisol in most patients after surgery, although there was no correlation between them. Beta-endorphin levels, on the other hand, rose after surgery and correlated significantly with ACTH in 30 patients. A steep rise in AVP levels was found in 84% of the subjects, a phenomenon that could not have been due only to osmotic or cardiovascular stimuli. The values of all the stress hormones declined and normalized on the day after surgery. We conclude that routine surgery in infancy or childhood induces a dramatic, albeit transient, stimulation of neuroendocrine stress hormones.


Assuntos
Sistemas Neurossecretores/fisiopatologia , Estresse Fisiológico/fisiopatologia , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Hormônio Adrenocorticotrópico/sangue , Anestesia , Arginina Vasopressina/sangue , Pressão Sanguínea/fisiologia , Criança , Pré-Escolar , Feminino , Hormônios/sangue , Humanos , Hidrocortisona/sangue , Lactente , Masculino , Pulso Arterial/fisiologia , Estresse Fisiológico/sangue , beta-Endorfina/sangue
5.
Forensic Sci Int ; 185(1-3): 84-8, 2009 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-19201115

RESUMO

In the literature, there are reports about the presence of cocaine, nicotine and cannabinoids in the hair of ancient mummies from South America or Egypt. Most of the results have been criticised because of the use of improper analytical techniques or contamination of the sample material. Recently an exhibition of 70 mummies from around the globe was organized at the Reiss-Engelhorn-Museen in Mannheim, Germany. It shows exhibits assembled by one of the worldfamous mummy projects, involving various specialists for anthropology, pathology, radiology, molecular biology and toxicology. Within this project, hair samples of eight pre-Columbian mummies were analyzed for drugs using modern routine gas chromatographic-mass spectrometric techniques. The tests revealed negative results, except for nicotine in the hair of three mummies. Nicotine was measured in concentrations of 57.5 ng/mg in the hair of a woman, 14.1 ng/mg in the hair of a child and 11.4 ng/mg in the hair of a further female mummy, but all cases revealed negative results for cotinine. The target analysis was performed with limits of detection of 0.04 ng/mg for nicotine and 0.033 ng/mg for cotinine. The washing solutions yielded negative results for both analytes, nicotine as well as cotinine. In our opinion, even with respect to negative results in the washing solutions, the present results cannot definitely confirm an active consumption with body passage in the life time of the analyzed mummies: An external contamination cannot be excluded, e.g. by transfer from smoking visitors or employees during the early collection history of the objects in the 19th century, as well as in their respective lifetime.


Assuntos
Cabelo/química , Múmias , Nicotina/análise , Agonistas Nicotínicos/análise , Adulto , Criança , Cotinina/análise , Feminino , Toxicologia Forense , Cromatografia Gasosa-Espectrometria de Massas , História Antiga , Humanos
6.
Clin Exp Hypertens A ; 8(4-5): 799-804, 1986.
Artigo em Inglês | MEDLINE | ID: mdl-3757287

RESUMO

Weight loss, polydipsia, polyuria, hyponatremia are symptoms often seen in patients with severe renin-induced hypertension. To investigate the role of the maturing kidney in the development of high pressure diuresis hypertension was induced in infantile (18 days old) and adult (40 days old) Sprague-Dawley rats by clipping one renal artery. In infantile rats blood pressure increase was steeper than in adult rats (7.8 vs. 3.2 mmHg/day). High pressure diuresis resulting in body weight loss was observed at systolic blood pressure levels of about 140 to 150 mmHg in infantile animals compared to 180 mmHg in adult rats. At this time fluid intake was increased to 64 in infantile and 30 ml/100 g body weight/day in adult rats. Plasma renin concentration and aldosterone were two fold higher in infantile than in adult rats. The data show that infantile rats, due to a higher activation of the renin-angiotensin-aldosterone system, have a steeper blood pressure increase and, furthermore, that during maturation of the kidney high pressure diuresis starts at lower blood pressure levels and is much more pronounced.


Assuntos
Diurese , Hipertensão Maligna/etiologia , Fatores Etários , Animais , Pressão Sanguínea , Peso Corporal , Hipertensão Maligna/fisiopatologia , Hipertensão Renovascular/etiologia , Hipertensão Renovascular/fisiopatologia , Rim/crescimento & desenvolvimento , Rim/fisiopatologia , Masculino , Pressão , Ratos , Ratos Endogâmicos
7.
Klin Padiatr ; 201(6): 458-63, 1989.
Artigo em Alemão | MEDLINE | ID: mdl-2601281

RESUMO

A 1-3/12-year-old Turkish boy born of consanguineous parents was hospitalized in poor general condition with disorientation, hepatosplenomegaly, and rickets. Laboratory tests showed pronounced symptoms of hepatic dysfunction, rickets, and Fanconi's syndrome with acidosis. The diagnosis juvenile type I tyrosinemia was based on the anamnesis, hepatorenal symptoms, and elevated tyrosine and methionine blood levels as well as the pathognomic findings of heavy succinylacetonuria and absent fumarylacetoacetase activity in the fibroblasts. Etiology, pathobiochemistry, clinical symptoms, differential diagnosis, and therapy of this rare autosomal-recessive inherited metabolic disease were discussed.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Aberrações Cromossômicas/genética , Genes Recessivos , Tirosina/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Aberrações Cromossômicas/sangue , Transtornos Cromossômicos , Consanguinidade , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Metionina/sangue
8.
Eur J Pediatr ; 130(4): 291-7, 1979 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-436852

RESUMO

The factors controlling aldosterone secretion were measured in 12 patients with moderate to severe dehydration during the first year of life. Secondary hyperaldosteronism was present in all cases (mean plasma aldosterone concentration 414.6 ng/dl), as well as increased plasma cortisol levels (mean 49.7 microgram/dl). Plasma cortisol, an indirect parameter of stimulation of the adrenal cortex by ACTH, showed the highest correlation with plasma aldosterone (r = 0.82). Despite a mean elevation of 168 ng AT/ml/h the plasma renin concentration did not seem to play the dominant role in the regulation of aldosterone secretion in these infants. High serum sodium concentrations have a clearly inhibiting effect on aldosterone secretion as shown by the negative correlation coefficient of r = 0.80.


Assuntos
Aldosterona/metabolismo , Desidratação/metabolismo , Aldosterona/sangue , Humanos , Hidrocortisona/sangue , Lactente , Recém-Nascido , Renina/sangue , Sódio/sangue
9.
Monatsschr Kinderheilkd ; 129(2): 96-100, 1981 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-6112674

RESUMO

The brain edema preventing effects of aldosterone and spirolactone were compared to the effects of dexamethasone in young rabbits, dehydrated by enteral application of Na2SO4-solution. The water-, sodium- and potassium content of total brains were measured after a four hour period of forced glucose infusion. The water content of the treated groups did not differ from the control group, whereas the electrolyte content differed significantly. Dexamethasone lowered the sodium content below normal value. Spirolactone treatment resulted in an elevated potassium content. It is assumed, that aldosterone and spirolactone in pharmacological doses act, like dexamethasone, by nonspecific effects on the blood-brain-barrier and cell membranes. The generally accepted principle of slow rehydration after hypertonic dehydration may have an additional beneficial effect by sustaining secondary hyperaldosteronism.


Assuntos
Aldosterona/uso terapêutico , Edema Encefálico/prevenção & controle , Dexametasona/uso terapêutico , Espironolactona/uso terapêutico , Animais , Barreira Hematoencefálica/efeitos dos fármacos , Química Encefálica , Dessecação , Potássio/sangue , Coelhos , Sódio/sangue , Água/análise
10.
Eur J Pediatr ; 135(2): 161-4, 1980 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-7004877

RESUMO

Captopril, an orally active inhibitor of angiotensin-converting-enzyme, offers a new approach in the treatment of renin-induced hypertension, which is refractory to conventional drugs. A 4 months old infant developed after nephrectomy again hypertension which was probably renin-induced. BP did not respond to high doses of methyl-dopa, clonidine, hydralazine, and furosemide. An acute BP response to captopril was seen at a daily dose of 150 mg. During long-term treatment 75 mg captopril and 12.5 mg hydrochlorothiazide resulted in normalization of BP. In a second child with renin-induced hypertension since the firth month of life, treatment wiht hydralazine, clonidine and hydrochlorothiazide was in part effective, but failure to thrive was progressive. Captopril treatment was started at the age of 20 months. BP was lowered at a daily dose of 75 mg and normalized during long-term therapy with 50 mg. Side effects were not seen.


Assuntos
Captopril/uso terapêutico , Hipertensão/tratamento farmacológico , Prolina/análogos & derivados , Renina/sangue , Captopril/administração & dosagem , Captopril/efeitos adversos , Humanos , Hipertensão/sangue , Hipertensão/etiologia , Lactente , Masculino , Nefrectomia
11.
Monatsschr Kinderheilkd ; 136(4): 162-70, 1988 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-3290660

RESUMO

Hyponatremia is the most common abnormality in electrolyte and water metabolism. In adult patients it is related to high morbidity and mortality. The degree of CNS-damage depends 1st on the absolute serum sodium concentration (NaS) and 2nd on the rapidity with which NaS is lowered. The most frequent etiology of hyponatremia in pediatric patients is dilutional hyponatremia (SIADH, infusion-therapy). Nephrotic syndromes and congestive heart insufficiency associated with cardiac low output are further causes. Being aware of the different pathophysiological mechanism prevention of hyponatremia is easily achieved by monitoring serum electrolytes, water balance and compensating renal factors in critically ill patients. Hyponatremias accompanied by neurological symptoms should be corrected by rapid infusion of hypertonic saline (514 mmol/l). NaS concentration should increase at a rate of 2 mmol/1 hour. Symptoms of central pontine myelinolysis in hyponatremia were not yet described in pediatric patients.


Assuntos
Hiponatremia/etiologia , Criança , Humanos , Hiponatremia/terapia , Solução Salina Hipertônica , Síndrome , Equilíbrio Hidroeletrolítico
12.
Psychother Psychosom Med Psychol ; 47(2): 64-71, 1997 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-9157470

RESUMO

The results of this qualitative exploratory study show that chronic schizophrenics partly cope successfully with the multivarious demands of everyday life, including the consequences of their illness. They mostly realize a relatively high level of quality of life. There is a distinct connection between the concrete institutional-therapeutic setting conditions and the multiplicity of participation in social life or the available ways of coping. We identified favourable and unfavourable coping modes as well as starting points for therapeutic interventions. A qualitative analysis of the individual case seems to be absolutely required, in order to estimate their efficiency.


Assuntos
Atividades Cotidianas/psicologia , Qualidade de Vida , Esquizofrenia/reabilitação , Psicologia do Esquizofrênico , Doença Crônica , Terapia Combinada , Humanos , Determinação da Personalidade , Projetos Piloto , Terapia Psicanalítica , Ajustamento Social
13.
Klin Wochenschr ; 58(18): 953-4, 1980 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-7206591

RESUMO

The history of a newborn developing severe renin-induced hypertension is reported. A thrombotic occlusion of the lower a.abdominalis with an ascending thrombus into the left a.renalis caused hypertension according to the two-kidney-one-clip hypertension. High pressure diuresis induced weight loss by polyuria, hyponatremia and hypokalemia by severe renal salt losses. The vicious circle of malignant hypertension was initiated by sodium losses, not sufficiently recompleted by therapy. The full picture of an acute hypertensive renal damage was seen at autopsy in the unclamped kidney.


Assuntos
Hipertensão Renal/metabolismo , Hipertensão Renovascular/metabolismo , Hiponatremia/metabolismo , Doenças do Recém-Nascido/metabolismo , Humanos , Recém-Nascido , Potássio/metabolismo , Sódio/metabolismo
14.
Eur J Pediatr ; 149(4): 287-92, 1990 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-2406151

RESUMO

The renal arteries of 62 children and adolescents aged 1-16 years without renal or renovascular disease were examined by computer Doppler duplex sonography (DDS) to measure absolute renal blood flow velocities. Maximum systolic velocity (Vmax) and time average velocity (TAV) were not age-dependent. In addition, absolute values of renal artery and renal blood flow were measured. Renal blood flow was 4.1 +/- 1.2 ml/min per gram kidney (two standard deviations), independent of age and comparable to commonly accepted physiological values. The coefficient of variation of blood flow calculations was 6%-15% depending on vessel diameter.


Assuntos
Artéria Renal/fisiologia , Circulação Renal , Ultrassonografia/métodos , Adolescente , Fatores Etários , Análise de Variância , Velocidade do Fluxo Sanguíneo , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Artéria Renal/anatomia & histologia , Reprodutibilidade dos Testes , Ultrassonografia/instrumentação
15.
Eur J Pediatr ; 153(8): 588-93, 1994 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-7957407

RESUMO

Computed duplex sonography was used to examine the renal arteries in 36 hypertensive children and adolescents (ages 4-17 years) with arterial hypertension of either renal or non-renal origin. Time-averaged flow velocities, maximum blood flow velocities as well as absolute renal blood flow and renal blood flow per gram kidney weight were measured. Normal flow velocities and normal to elevated renal blood flow volume was found in patients with acute glomerulonephritis and those with signs of chronic glomerulonephritis onset. Patients having advanced stages of chronic glomerulonephritis, on the other hand, were characterized by lower levels of all parameters. Unilateral renal artery stenosis was diagnosed correctly in four patients, although one intra-renal artery stenosis escaped imaging. Scarred kidneys exhibited low-normal or reduced flow velocities and renal blood flow volumes corresponded roughly to kidney size and preservation of normal kidney structure. Hypertension in some patients with normal kidneys showed a tendency to cause higher renal blood flow without consistent acceleration of blood flow velocities. We conclude that duplex sonography is a suitable primary diagnostic tool in measuring blood flow velocities and absolute renal blood flow volume in hypertensive children, thus facilitating the choice of the next diagnostic step.


Assuntos
Hipertensão Renal/diagnóstico por imagem , Artéria Renal/diagnóstico por imagem , Ultrassonografia Doppler Dupla/métodos , Adolescente , Velocidade do Fluxo Sanguíneo , Criança , Pré-Escolar , Doença Crônica , Glomerulonefrite/diagnóstico por imagem , Glomerulonefrite/fisiopatologia , Humanos , Hipertensão Renal/classificação , Hipertensão Renal/fisiopatologia , Hipertensão Renovascular/diagnóstico por imagem , Hipertensão Renovascular/etiologia , Hipertensão Renovascular/fisiopatologia , Obstrução da Artéria Renal/complicações , Obstrução da Artéria Renal/diagnóstico por imagem , Obstrução da Artéria Renal/fisiopatologia , Circulação Renal
16.
Pneumologie ; 53(1): 45-9, 1999 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-10091518

RESUMO

This study reports on the results of a checkup carried out on 38 patients subjected to an extended cancer aftercare examination at least 6 months after pneumectomy because of bronchial carcinoma, 12 of these patients receiving adjuvant chemotherapy and/or radiotherapy. Lung function data determined by body plethysmography were measured, as well as the quality of life, using the Karnofsky and Spitzer indices as well as QLQ-C30 of the EORTC. In addition, anamnestic data and postoperative ECG and blood gas analysis results were recorded. The most important findings concern restricted lung function due to pneumectomy, an IVC decrease by 33.3%, a drop in FEV1 by 27.3% and a reduction of the total lung capacity (TLC) by 14%. Moreover, a distinctly increased right heart load was seen in 23.4% of all patients. The quality of life tests revealed a slightly reduced quality of life in the external assessment indices according to Karnofsky (86 +/- 11%) and Spitzer (8.6 +/- 1.2). Self-assessment by QLQ-C30 of the EORTC, however, evidenced a clear reduction of the global quality of life (54.2 +/- 15.6) and role function, a moderate decrease of physical, emotional, cognitive and social functioning as well as a greatly increased incidence of the symptoms fatigue, dyspnea, sleep disturbances and pain after surgery. Adjuvant therapy applied in 12 patients had no significant influence, neither on lung function parameters nor on the quality of life. A more advanced tumour stage or a relapse, however, will adversely affect the quality of life.


Assuntos
Neoplasias Pulmonares/cirurgia , Recidiva Local de Neoplasia/cirurgia , Pneumonectomia/métodos , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Adulto , Assistência ao Convalescente , Idoso , Quimioterapia Adjuvante , Terapia Combinada , Feminino , Seguimentos , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/radioterapia , Medidas de Volume Pulmonar , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/radioterapia , Estadiamento de Neoplasias , Radioterapia Adjuvante , Fatores Sexuais
17.
Klin Padiatr ; 204(6): 434-43, 1992.
Artigo em Alemão | MEDLINE | ID: mdl-1479797

RESUMO

The scimitar syndrome is a rare congenital cardiopulmonary malformation. In association with a horseshoe lung it is extremely uncommon. We describe a child with typical scimitar syndrome (anomalous right pulmonary venous return, hypoplasia of the right lung with dextro-position of the heart and aberrant systemic arterial supply of the right lung), associated with a horseshoe lung. No clinical symptoms are present, surgical management is not necessary. This is the 20th case in addition to the 19 reported cases with scimitar syndrome associated with horseshoe lung. Eight other additional cases of horseshoe lung without scimitar syndrome are mentioned here. In horseshoe lung the pulmonary parenchyma extends from the right lung base across the midline and fuses with the left lung. In only 3 cases continuous parenchymal tissue could be found histological. In 8 cases the lungs were separated by fissurelike structures, seen in CT or chest film, and in 5 cases fissures were demonstrated histological. From 6 patients no findings are available. The various symptoms, the diagnostic tools and the therapeutic procedure will be discussed.


Assuntos
Pulmão/anormalidades , Síndrome de Cimitarra/diagnóstico , Sequestro Broncopulmonar/diagnóstico , Sequestro Broncopulmonar/fisiopatologia , Pré-Escolar , Diagnóstico por Imagem , Feminino , Humanos , Oxigênio/sangue , Veias Pulmonares/anormalidades , Síndrome de Cimitarra/fisiopatologia , Relação Ventilação-Perfusão/fisiologia
18.
Pediatr Nephrol ; 6(6): 527-31, 1992 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-1482639

RESUMO

Insulin-like growth factor (IGF)-I and IGF-II serum and kidney tissue concentrations were measured in compensatory kidney growth in infantile and adult rats. We hypothesized that the known switch from IGF-II in fetal life to IGF-I in adult life may be responsible for the different modes of compensatory kidney growth, which are mainly characterized by hyperplasia in infantile rats and hypertrophy in adult rats. While IGF-I serum concentrations increased with age in infantile rats, kidney tissue concentrations of IGF-I showed a similar increase in both age groups after uninephrectomy. In adult rats, serum and kidney tissue concentrations of IGF-II were unchanged by uninephrectomy. In infantile rats, however, a significant increase in both serum and kidney concentrations of IGF-II was observed with a maximum at day 5 after uninephrectomy. To investigate if compensatory kidney growth is dependent on hyperperfusion of the remnant kidney, the left renal artery was clipped in infantile rats. The clipped kidney showed growth retardation despite normal kidney tissue concentrations of IGF-I and IGF-II. The contralateral kidney was enlarged and IGF-II kidney concentrations were elevated. However, animals with one clipped kidney and nephrectomy of the contralateral kidney showed compensatory kidney growth of the clipped kidney combined with increased IGF-II kidney tissue concentrations. We conclude that IGF-II mainly promotes compensatory kidney growth in infantile rats by hyperplasia. Hyperperfusion of the remnant kidney seems to be unnecessary for initiation of compensatory kidney growth.


Assuntos
Fator de Crescimento Insulin-Like II/metabolismo , Rim/crescimento & desenvolvimento , Envelhecimento/metabolismo , Envelhecimento/fisiologia , Animais , Peso Corporal , Hiperplasia , Hipertrofia , Fator de Crescimento Insulin-Like I/metabolismo , Rim/metabolismo , Masculino , Nefrectomia , Tamanho do Órgão , Radioimunoensaio , Ratos , Ratos Sprague-Dawley
19.
Eur J Pediatr ; 136(1): 21-30, 1981 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7215388

RESUMO

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.


Assuntos
Nanismo/genética , Hipoparatireoidismo/genética , Erros de Refração/genética , Adolescente , Adulto , Anemia/complicações , Anemia/genética , Criança , Nanismo/complicações , Nanismo/diagnóstico por imagem , Feminino , Humanos , Hiperopia/complicações , Hiperopia/genética , Hipoparatireoidismo/complicações , Masculino , Microftalmia/complicações , Microftalmia/genética , Miopia/complicações , Miopia/genética , Linhagem , Radiografia , Erros de Refração/complicações , Síndrome
20.
Monatsschr Kinderheilkd ; 141(3): 207-10, 1993 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-8474466

RESUMO

The case of a female preterm infant (gestational age 36 weeks) is described, who presented with abdominal distension, diarrhoea, dehydration and metabolic alkalosis at the fifth day of life. After different diagnostic tests had been performed, congenital chloride diarrhoea was suspected and chloride supplementation was started. However, this diagnosis could not be confirmed, until the measurement of electrolytes in faeces had been improved. Then, we found the typically elevated fecal chloride concentration (130-153 mmol/l) which exceeded the sum of the fecal concentration of sodium (64-90 mmol/l) and potassium (28-35 mmol/l). The chloride supplementation was increased to 6 mmol/kg/d NaCl and 2 mmol/kg/d KCl. The most recent examination at the age of 1 year revealed the girl to be in good clinical condition, with normal growth and psychomotor-development and with no evidence of renal impairment.


Assuntos
Alcalose/genética , Cloretos/sangue , Aberrações Cromossômicas/genética , Diarreia Infantil/genética , Genes Recessivos , Alcalose/fisiopatologia , Cloretos/administração & dosagem , Transtornos Cromossômicos , Diagnóstico Diferencial , Diarreia Infantil/fisiopatologia , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/fisiopatologia , Feminino , Seguimentos , Humanos , Hipopotassemia/genética , Hipopotassemia/fisiopatologia , Hiponatremia/genética , Hiponatremia/fisiopatologia , Lactente , Recém-Nascido , Equilíbrio Hidroeletrolítico/fisiologia
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