Biomedical subjects

M Emeis

Publications and source records attributed to M Emeis.

6 recordsLinked to original sources

PubMed1999

Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.

Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that was diagnosed in the early neonatal period. Hypothyroidism in the first child of apparently unrelated parents was suspected because of the classical symptoms of congenital hypothyroidism, which were fully expressed already on the 11th day of life. Routine neonatal TSH-screening on the 4th day of life had been normal, but subsequent determination of serum thyroid hormone levels revealed almost undetectable levels and thyroid hormone substitution was immediately started. Because there was no indication for other pituitary hormone deficiencies, sequence analysis of the betaTSH gene was initiated. A homozygous T deletion in codon 105 was found resulting in a change of a highly conserved cysteine to valine followed by eight altered amino acids and a premature stop codon due to the frame-shift. This altered betaTSH is a biologically inactive peptide. Because of the early development of severe symptoms, it is possible that this altered TSH suppresses the physiologic constitutive activity of the unliganded TSH receptor. Rapid molecular diagnosis in this patient clarified the diagnosis without additional endocrine and imaging studies and it is concluded, that symptoms of hypothyroidism in the neonatal period should result always in an immediate comprehensive work-up of thyroid function including molecular genetic studies irrespective of the screening result.

Congenital Hypothyroidism↗

PubMed1998

Complement activation during plasma production depends on the apheresis technique.

Elevated anaphylatoxin concentrations have been found in fresh frozen plasma packs produced by apheresis. The aim of this study was to investigate anaphylatoxin generation during apheresis production in relation to two frequently used techniques: employing either centrifugation alone or centrifugation with simultaneous filtration. The concentrations of C3a. C5a and sC5b-9 were measured in 50 plasmas after apheresis and before freezing generated by combined centrifugation and filtration and in 50 plasmas generated solely by centrifugation and in the corresponding 100 donors before apheresis. The median C3a concentration increased during apheresis by centrifugation alone from 62 (donor) to 380 micrograms L-1 (FFP pack) and during apheresis by combined centrifugation and filtration from 70 to 992 micrograms L-1. The median C5a concentration increased during apheresis by centrifugation alone from 0.38 to 0.83 microgram L-1 and during apheresis by combined centrifugation and filtration from 0.29 to 4.9 micrograms L-1. The soluble terminal complement complex increased only by combined centrifugation and filtration apheresis from 162 to 426 micrograms L-1. Complement activation during apheresis by combined centrifugation and filtration is more pronounced than that obtained by the centrifugation method alone. Changes in the construction or the materials used in the membrane-type separation units may reveal possibilities of prevention.

Adolescent↗

PubMed1998

In vitro activation of complement and contact system by lactic acidosis.

The activation of complement and contact systems occurs in reperfusion injuries with initial tissue hypoxia, and lactic acidosis such as mycardial infarction and birth asphyxia. The aim of our experiment was the formal proof of activation by sole lactic acidosis. Lactic acid was added to blood and plasma samples from 10 healthy volunteers. C5a and factor XIIa were measured by EIA after incubation at 37 degrees C for 1 h. Both concentrations increased (P < 0.0001 by Friedman analysis) in blood and plasma samples with increasing amount of added lactic acid. Lactic acidosis can activate C5 from the complement system and factor XII from the contact system directly, even in the absence of cellular components.

Acidosis, Lactic↗

PubMed1998

Acidosis activates complement system in vitro.

We investigated the in vitro effect of different forms of acidosis (pH 7.0) on the formation of anaphylatoxins C3a and C5a. Metabolic acidosis due to addition of hydrochloric acid (10 micromol/ml blood) or lactic acid (5.5 micromol/ml) to heparin blood (N=12) caused significant activation of C3a and C5a compared to control (both p=0.002). Respiratory acidosis activated C3a (p=0.007) and C5a (p=0.003) compared to normocapnic controls. Making blood samples with lactic acidosis hypocapnic resulted in a median pH of 7.37. In this respiratory compensated metabolic acidosis, C3a and C5a were not increased. These experiments show that acidosis itself and not lactate trigger for activation of complement components C3 and C5.

Acidosis↗

PubMed1994

[Imported cholera infection caused by a new nonagglutinating cholera agent].

Within 24 hours of returning from a five-week holiday in Pakistan a 15-year-old girl developed vomiting and massive diarrhoea leading to severe dehydration with hypovolaemic shock. The diastolic blood pressure was no longer measurable and prerenal renal failure occurred with a serum creatinine of 4.4 mg/dl and metabolic acidosis (pH 7.21, base excess-16.9 mmol). Initially treatment consisted of rehydration (day 1: 9280 ml, day 2: 4850 ml). The patient's condition rapidly improved and she had voluminous stools. A concurrent urinary infection due to Klebsiella pneumoniae was first treated with cotrimoxazole. As a new strain of Vibrio cholerae, serogroup O 139, was isolated from stool, treatment was changed to tetracycline (50 mg/kg daily). Regaining a good general state she was transferred to an isolation ward on the 6th hospital day. The isolated cholera organism belongs to a nonagglutinating serogroup which is indistinguishable clinically and epidemiologically from the classical Vibrio strains which cause cholera. Since the end of 1992 this new serogroup has been causing an explosive spread of cholera in Bangladesh and India.

Adolescent↗

PubMedDate not supplied

[Imported visceral leishmaniasis (kala azar) in a German infant].

We here report the case of a 1 4/12 year old girl with visceral leishmaniasis. Returning from a trip to Mallorca she presented with pancytopenia, splenomegaly and fever and was admitted to hospital with suspected malignancy. Diagnosis was established microscopically from bone marrow smear and confirmed by PCR-assisted amplification of leishmania-specific DNA from peripheral blood. Treatment was conducted with stibogluconate for 25 days. Defervescence and improvement of clinical symptoms was seen after 4 days of treatment. Infection due to Leishmania donovani can be acquired throughout the entire mediterranean area and should therefore be included in the differential diagnosis of suspected malignancies in patients with a history of travel to mediterranean countries. PCR proved to be a sensitive tool for establishing the diagnosis of visceral leishmaniasis.

Antimony Sodium Gluconate↗