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Biomedical subjects

W Andler

Publications and source records attributed to W Andler.

At least 37 records · Page 2Linked to original sources
PubMed1998

Induction of early puberty in a boy after treatment with oxandrolone?

We report on a 9-year-old boy with early puberty who had been treated with oxandrolone because of constitutional delay of growth. Treatment was started at the age of 6.25 years. During the treatment with oxandrolone over 22 months, the height velocity increased above the 97th percentile, and bone age developed twice as fast as chronological age. After discontinuing the medication, the growth velocity did not decrease, and the bone age still accelerated. When he was 9.1 years old, testicular volume had increased to 12 ml, pubic hair stage had progressed and he developed a mild facial acne. We hypothesize that oxandrolone could have induced an early onset of puberty in this boy. We conclude that treatment with oxandrolone in young children should be considered carefully and be used for short periods only. Potential side effects might include the rapid acceleration of puberty and skeletal maturation.

Age Determination by Skeleton↗
PubMed1998

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

A 5-month-old infant of nonconsanguineous parents had severe hypothyroidism. Undetectable serum levels of T3 and T4 in combination with an undetectable baseline TSH level led to the diagnosis of central hypothyroidism. Administration of TRH failed to increase serum TSH, but not PRL, confirming isolated TSH deficiency. Measurement of the TSH in serum with three different immunoassays that recognize different epitopes of the TSH molecule failed to detect TSH, suggesting an aberrant or absent TSH. Direct sequencing of the entire coding region of the human TSH beta-subunit gene revealed a homozygous single base pair deletion in codon 105, resulting in a frame shift with a premature stop at codon 114. The truncated TSH beta peptide lacks the terminal five amino acids. Furthermore, the cysteine in codon 105 that is believed to be important for the interaction of the TSH beta-subunit with the alpha-subunit, is replaced with a valine (C105V), supporting the theory of a conformational change in the TSH molecule. Genotyping confirmed that the proposita was homozygous for this mutation, whereas her unaffected parents, the paternal grand-mother, and the maternal grandfather were heterozygous. Thus, isolated TSH deficiency follows an autosomal recessive mode of inheritance in this kindred.

Amino Acid Sequence↗
PubMed1997

Respiratory control in children with Prader-Willi syndrome.

UNLABELLED: Physiological parameters of infants and children with Prader-Willi syndrome were examined in order to clarify whether there were indicators of disturbed respiratory control mechanisms in the pre-obesity stage of the syndrome. From January 1993 to March 1995 in eight patients with Prader-Willi syndrome (five boys, three girls, aged 6 weeks-12.5 years), polysomnography was performed and compared with 28 children matched for gestational age, sex, birth weight and age at sleep study. The recordings included thoracic and abdominal breathing movements, nasal airflow, tcPO2, tcPCO2, oxygen saturation, EEG, EOG and ECG. Respiratory responses to hypercapnia during quiet sleep were obtained from five Prader-Willi patients and ten peers. The Prader-Willi group showed an increased number of apnoeas per hour of sleep, a decreased nadir of oxygen saturation, increased maximum of the instantaneous heart rate and decreased respiratory responses to hypercapnia during quiet sleep. CONCLUSION: These findings indicate a primary disturbance of central respiratory control in patients with Prader-Willi syndrome which may be worsened by the development of obesity.

Age of Onset↗
PubMed1995

Polygraphic findings in young infants with Joubert's syndrome.

In three young infants with Joubert's syndrome polygraphic recordings were carried out in the awake state and during REM and NREM sleep in order to characterize the respiratory disorder associated with this condition. In all three states disturbed respiration parameters were found in variable amounts. The highest breath rate occurred in the awake state followed by REM and NREM sleep. The highest incidence of apnoea and periodic breathing was observed in NREM sleep, followed by REM sleep and the awake state.

Journal Article↗
PubMed1993

[Obstructive apnea and periodic respiration in premature infants].

BACKGROUND: Disturbances of cardiorespiratory function are common clinical problems in preterm infants. Polygraphic recordings during sleep were performed in order to determine frequency and severity of idiopathic apnea of prematurity. METHOD: In 137 preterm infants at the corrected age of < +/- 0 weeks, 0-12 weeks, 13-24 weeks and > or = 25 weeks respectively central and obstructive apnea and periodic breathing were recorded by polysomnography including nasal airflow and thoracic and abdominal breathing movements and compared with 50 normal full-term infants. RESULTS: Apnea frequency was inversely correlated to gestational age in premature and term infants. Whereas no differences were found concerning central apnea and periodic breathing, obstructive apnea occurred more frequently in premature than in term infants during the first weeks of life. CONCLUSIONS: Conclusively, in early infancy premature infants have an inclination to upper airway obstruction.

Female↗
PubMed1993

[Hemorrhagic shock and encephalopathy syndrome].

BACKGROUND: There are only a few case reports from Germany of hemorrhagic shock and encephalopathy syndrome (HSES), whereas the incidence of this entity is probably much higher than reported. Thus, it seems necessary to describe further observations of patients with HSES. METHODS: Seven patients (3 boys, 4 girls, aged 8 days to 9.5 months) were observed between 1987 and 1992, who fulfilled the diagnostic criteria of HSES. Their clinical data and laboratory findings were evaluated. RESULTS: Diarrhoea preceded onset of HSES in 4 patients, 3 patients had loose stools immediately after admission. Disturbed consciousness, severe shock, metabolic acidosis, fever and disturbed coagulation parameters were present in all of them. In 2 patients low concentrations of alpha-1-antitrypsin were found during the acute phase of HSES. Edema of the brain was diagnosed in 4 patients, additional cerebral infarction in 2 patients and cerebral hemorrhage in 1 patient. Three patients died, 3 of 4 survivors had severe brain damage. CONCLUSION: HSES is a clinical entity with unknown etiology, acute onset, fulminating course and poor outcome. Prognosis may be improved by thorough treatment of brain edema, shock and disseminated intravascular coagulation.

Brain Damage, Chronic↗
PubMed1993

[Sleep apnea in hyperplasia of the pharyngeal lymphatic tissue. Polysomnographic studies in children].

BACKGROUND: Hyperplasia of tonsils and adenoids is a common finding in early childhood. Breathing difficulties caused by hyperplastic lymphatic tissue represent an indication for adenoidectomy and tonsillectomy. It was examined, whether a polysomnographic recording is a useful tool to assess the severity of obstructive sleep apnea in children with hyperplasia of tonsils and adenoids. METHODS: In 15 patients (10 boys, 5 girls), 1.0 to 6.6 years of age, with a history of breathing difficulties during sleep a thorough clinical evaluation was performed. Additionally, a polysomnographic recording was carried out, including thoracic and abdominal breathing movements, nasal and buccal thermistor, ECG and transcutaneous blood gases. RESULTS: Before therapy, severe obstructive apnea was demonstrated by polysomnography in all patients. This finding disappeared almost completely after surgery. Hyperplasia of adenoids was diagnosed in 3 patients, hyperplasia of tonsils in 3 patients, hyperplasia of tonsils and adenoids in 8 patients, and other kind of lymphatic hyperplasia in 1 patient. CONCLUSION: Hyperplasia of tonsils and adenoids contributes to the development of sleep-apnea-syndrome in childhood. A polysomnographic recording seems to be a useful tool to describe the severity of obstructive sleep apnea in children with hyperplasia of tonsils and adenoids.

Adenoidectomy↗
PubMed1992

["A life threatening event" in infants. Results of polysomnography and examination of a group of 122 infants].

Survivors of an "apparent-life-threatening-event" subsequently more often die from sudden infant death syndrome than others. The aim of this study was to find out abnormal clinical symptoms and/or polysomnographic patterns in this group of patients. Between January 1989 and September 1990 122 infants (mean age 13.98 weeks) were examined after a life threatening event (mean age 9.3 weeks at the event). In total, 222 polysomnographic studies were performed. In 46 cases additional esophageal pH-metric measurements, and in 26 cases a Holter 24 hours monitoring were done. Seven infants were premature and had been ventilated, and 6 were siblings of sudden-infant-death-syndrome victims. Pulmonary problems were identified in 7 (6%), cardiac problems in 17 (14%), 18 (15%) had neurological problems, and 40 (33%) showed a gastroesophageal reflux. In 14 (11%) other diseases were found. Only 43 (35%) infants were without pathologic findings and were classified as having had an "idiopathic" event. The polysomnographic studies showed that obstructive apnea occurred significantly more often, the maximal duration of apnea was longer, and the number of sudden pO2 decreases was significantly higher than in a group of 188 normal infants. Thus, patients having had an "apparent-life-threatening-event" showed a broad spectrum of abnormal clinical symptoms and some respiration disturbances compared to a reference group of infants.

Cerebral Cortex↗
PubMed1992

[Endocrinologic disorders in deletion of chromosome 18].

Patients suffering from deletions of chromosome 18 (p-, q-) show regularly short stature. Endocrinological investigations were performed to prove if short stature is due to pituitary insufficiency. In three female patients with deletions of chromosome 18 and retarded bone age serum growth hormone was investigated after insulin induced hypoglycemia, after glucagon-propranolol and after stimulation with growth hormone releasing hormone. Thyroid function, gonadal function and adrenal function were investigated too. All three patients showed growth hormone deficiency. In one patient there were found in addition hypothyroidism and gonadotrophine deficiency as well. In conclusion growth failure in some patients with deletions of chromosome 18 seems to due to pituitary insufficiency. In these patients treatment with recombinant growth hormone may increase growth velocity.

Child, Preschool↗
PubMed1991

[Herpes simplex encephalitis in childhood].

This is a report on diagnostic and therapeutic experience in 6 patients aged 3 weeks to 6.3 years suffering from herpes simplex encephalitis. In 2 patients, a 3-week-old newborn and a 1.3-year-old boy, acyclovir-therapy started at days 8 and 17 respectively, following the demonstration of hemorrhagic necrosis in the brain by cranial CT-scan and IgM-specific HSV-antibodies in the blood. A 6.3-year-old girl was treated with acyclovir at day 10 of her illness, when cCT showed hemorrhagic necrosis in the brain. It was not before the 21st day, that diagnosis of HSE could be confirmed serologically. She suffered a relapse of encephalitis 5 weeks later. In a 3-month-old boy, treated with acyclovir at day 4 of his illness, IgM-specific HSV-antibodies were found already at day 4. His clinical course was complicated by subdural effusion. These 4 children survived with severe neurologic sequelae. Another 2 patients, a 5- and 7.5-month-old boy respectively, survived without apparent defect. In both cases vesicles upon the tongue appeared in the beginning of illness. Acyclovir-therapy started at day 7, diagnosis being confirmed serologically later. In our experience HSE should be suspected in children suffering from fever, drowsiness and focal or secondarily generalizing seizures. In these cases antiviral therapy should not depend on serologic findings.

Acyclovir↗
PubMed1991

[Autonomous ovarian cysts and pseudo-pubertas praecox].

Six prepubertal girls presented with precocious pseudopuberty associated with ovarian follicular cysts. Five patients normalized spontaneously after several months, in one patient the cyst was removed by laparotomy. Elevated estrogen serum levels and failure of gonadotropin responses after gonadotropin releasing hormone were the classical findings in these patients during the acute period of the disease. In a later period, however, estrogen and gonadotropin levels may be normalized although breast development is still present. Surgical treatment was performed in one patient although spontaneous remission would have been probable. Three patients showed several episodes of precocious pseudopuberty. In three patients ACTH testing was performed after dexamethason suppression. All three patients showed elevated 17-hydroxyprogesterone responses which were similar to those in heterocygotes for C21-hydroxylase deficiency.

Child↗
PubMed1982

Hypothalamic function in patients with tumors of the pineal area.

10 patients, aged 4-17 years, were investigated in order to study the influence of tumors of the pineal area on the hypothalamic endocrine function. Immunoreactive growth hormone (GH) failed to increase sufficiently in 9 patients after insulin induced hypoglycemia (IIH) and in seven patients after propranolol-glucagon (PG). Secondary adrenocortical insufficiency was present in four patients. Three of these patients showed biochemically hypothalamic hypothyroidism with elevated basal prolactin levels, hypogonadotropic hypogonadism and neurohumoral diabetes insipidus. The study shows that hypothalamic dysfunction in patients with tumors of the pineal area is at least as frequent as in patients with suprasellar tumors and that diabetes insipidus may be present before any surgical or radiological treatment.

Adolescent↗
PubMed1981

[Suprasellar tumors in childhood, clinical and experimental investigations].

Suprasellar tumors frequently produce hypothalamic endocrine disorders. Impairment of endocrine function will usually persist and may even aggravate following surgical or radiological treatment. An animal model has been developed in order to learn how irreversible endocrine disorders develop as a result of tumor growth. Fogarty balloon catheters were inserted to dogs below the optic chiasm and filled with contrast medium. The balloon was emptied four weeks after surgery. The experiments demonstrate that impairment of hypothalamo-pituitary function is a two-stage process: Initially reversible secondary hypothyroidism will develop. During the second stage some animals develop chronic dysfunction of both thyroid and adrenocorticoid gland which is irreversible even after careful removal of the experimental tumor. In regard to human pathology this could mean that endocrine disorders in patients with suprasellar space occupying lesions are definitively irreversible, independent of the therapy applied.

Adrenal Gland Diseases↗
PubMed1980

Experimental hypothalamic dysfunction in dogs.

The authors demonstrate an experimental model in dogs developed in order to study endocrine disorders as a result of suprasellar space occupying lesion. Fogarty balloon catheters were inserted in dogs below the optic chiasm and filled with contrast medium. The study of thyroid function shows that initially reversible hypothalamic hypothyroidism develops and that in a second stage most animals develop chronic thyroid dysfunction which is irreversible even after careful removal of the experimental tumor. The clinical symptoms correlate with these findings. Morphological examinations prove the fact that the hypothalamic disorders are due to disturbances of the blood-brain-barrier in the hypothalamus following hypothalamic compression and decompression.

Animals↗
PubMed1980

[Etiology of acquired growth hormone deficiency (author's transl)].

Authors report on 18 patients with growth hormone deficiency acquired during infancy or childhood. In 14 patients pituitary dysfunction was due to a tumor close to the sella turcica and in one to a suprasellar arachnoidal cyst. In two children growth hormone deficiency followed brain trauma. In one child measles and in one primary hyperlipoproteinemia (Type I) are supposed to be the cause of growth hormone deficiency. The results of endocrinological investigations show that growth hormone deficiency in these patients is not due to a primary pituitary but rather to a suprapituitary lesion.

Adolescent↗
PubMed1980

[Multiple sclerosis in the first decade of life (author's transl)].

Authors report on four patients with clinically typical multiple sclerosis with onset in childhood up to the tenth year of life. Though the onset of the disease in childhood is unusual, a pediatrician confronted with a child showing evidence of scattered neurologic deficits that remit should consider the possibility of multiple sclerosis. The disease does not appear to differ clinically from the disease as observed in adults, in respect to mode of onset, symptoms, and physical findings. Even in childhood the chronic non remitting course does occur.

Age Factors↗