Atypical Presentation of Metastatic Castrate-resistant Prostate Cancer in a Middle Aged African Male with Good Response to Radioligand Therapy.

Prostate cancer typically follows a characteristic pattern of metastatic spread to the pelvic lymph nodes and bone. Atypical patterns of metastasis are rare but have been documented. In African men, this disease tends to follow a more aggressive course, with the possibility of an atypical site of metastatic spread.

Incidence and follow-up of persistent lung perfusion abnormalities as a result of suspected air trapping or microthrombosis in non-hospitalised COVID-19 patients during the early half of the pandemic - experience in a tertiary institution in South Afr.

Background: Available clinical data have revealed that COVID-19 is associated with a risk of pulmonary microthrombosis and small airway disease, especially in patients with severe disease. These patients present with persistent pulmonary symptoms after recovery, with ventilation and perfusion abnormalities present on several imaging modalities. Few data are available on the occurrence of this complication in patients who earlier presented with a milder form of COVID-19, and their long-term follow-up.

Identification and Follow-up of COVID-19 Related Matching Ventilation and Perfusion Defects on Functional Imaging Using VQ SPECT/CT.

Purpose: Available clinical data have revealed that coronavirus disease 2019 (COVID-19) is associated with a risk of pulmonary microthrombosis and small airway disease. These patients present with varying degrees of perfusion abnormalities. The purpose of this study was to evaluate the use of a ventilation/perfusion single-photon emission computed tomography/computed tomography (VQ SPECT/CT) in the detection and follow-up of persistent lung perfusion abnormalities that were suspected to be due to pulmonary microthrombosis, small airway disease, or both.

Characteristics of L-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling.

A deficiency of the mitochondrial matrix enzyme L-ornithine: 2-oxoacid aminotransferase causes gyrate atrophy of the choroid and retina with hyperornithinemia (MIM 258870), a blinding degenerative disease, which is inherited as an autosomal recessive trait. We have developed a sensitive microradioisotopic method for enzyme assay by using 2-oxo-[5-14C] glutarate as the substrate and performing the separation of the product, [5-14C] glutamate from the substrate on a cation-exchange column. The enzyme activity was determined in human and rat tissues and in cultured cells.

Quantitation of total homocysteine in human plasma by derivatization to its N(O,S)-propoxycarbonyl propyl ester and gas chromatography-mass spectrometry analysis.

Much evidence supports the hypothesis that mild or moderate hyperhomocysteinaemia represents an important and independent risk factor for occlusive vascular diseases. Therefore, the accurate and reliable determination of total plasma homocysteine has gained major importance for risk assessment. Furthermore, it can help in the detection of folate and vitamin B12 deficiency.

Inherited metabolic diseases affecting the carrier.

The objective of this review is to draw attention to those inherited metabolic traits which are potentially harmful also for the carrier, and to outline preventive measures, at least for obligate heterozygotes, i.e. parents of homozygous children.

No significant influence of HLA determinants on susceptibility to hepatitis C virus infection in Caucasian patients with end-stage renal disease.

In hepatitis C, both susceptibility to infection and the course of disease may depend on differences in the immune response. As the major histocompatibility complex (MHC) plays a crucial role in antigen presentation, we investigated a possible relationship between susceptibility to hepatitis C virus (HCV) infection and human leucocyte antigen (HLA) alleles. Therefore, phenotype frequencies of HLA were compared in 186 anti-HCV positive patients with end-stage renal disease (ESRD) to 328 anti-HCV negative patients with ESRD.

Relationship between human leukocyte antigen determinants and courses of hepatitis B virus infection in Caucasian patients with end-stage renal disease.

Background: Divergent results have been reported with regard to the relationship between the course of hepatitis B virus (HBV) infection and the human leukocyte antigen (HLA) determinants. The aim of the present study was to investigate the phenotype frequencies of HLA class-I and -II alleles in Caucasians with and without HBV infection.

Methods: Fifty-eight patients with persistent HBV infection (group 1), 119 patients with resolved HBV infection (group 2), and 106 patients neither infected by HBV nor vaccinated against HBV (group 3) were analyzed.

Simplified PCR-SSO procedure for DQA and DQB typing. Simultaneous hybridization of two probes to one membrane.

To simplify DQA and DQB oligotyping, we applied our improved PCR-SSO procedure for DR typing. We used 12 oligonucleotide probes for DQA typing and 18 for DQB typing. Oligonucleotide probes that require the same hybridization and stringent washing conditions were selected as pairs for simultaneous hybridization to a dot-blot membrane containing various DNA samples.

Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria.

The effect of a protein-rich meal alone or in combination with 85 mumol/kg body weight aspartame (APM) on plasma phenylalanine and large neutral amino acids (LNAA) was evaluated in obligate heterozygotes for phenylketonuria (PKU) and normal subjects (controls). Thirteen PKU heterozygotes (seven women, six men) and 13 controls (five women, eight men) ingested a 12-noon meal providing approximately 303 mumol/kg Phe. In addition, 10 PKU heterozygotes (five women, five men) and 10 controls (five women, five men) ingested the same meal with 85 mumol/kg APM (providing 75 mumol/kg Phe).

[HLA-DR typing using PCR-SSO with simultaneous hybridization of each dot blot membrane with a digoxigenin- and a biotin-marked probe].

Here we present a PCR-SSO procedure designed to simplify HLA-DR typing. We labelled 8 of a total of 16 oligonucleotide probes with digoxigenin, the others with biotin, and formed 8 pairs, each containing a digoxigenin- as well as a biotin-labelled probe. Each pair was hybridized simultaneously to one of eight dot blot membranes containing the DNA to be typed.

[Familial investigations of carriers of Rh 33].

The erythrocytes of a blood donor (P) showed an unusual pattern with anti-D sera: no agglutination with incomplete sera, and a strong agglutination with 2 out of 5 complete, monoclonal sera. These findings suggested the presence of an Rh 33, which was then confirmed in two external laboratories as the genotyp R0Har. Using anti-e sera, the titer scores of the cells of P were comparable with those of Ee cells but were only half as high as the scores of ee cells.

A polymerase chain reaction-sequence-specific oligonucleotide procedure for HLA class II typing using biotin- and digoxigenin-labeled probes simultaneously in hybridization.

To simplify PCR-SSO HLA-DRB generic typing, we labeled eight of 15 oligonucleotide probes with DIG and the others with biotin, and hybridized each dot blot with both a biotin-labeled probe and a DIG-labeled probe simultaneously. We chose oligonucleotide pairs which require the same hybridization and stringent washing conditions and do not compete with each other during hybridization. After incubation with a mixture of anti-DIG Fab fragment-alkaline phosphatase and streptavidin-peroxidase conjugates, specific binding of the DIG-labeled probe was revealed by a chemiluminescent substrate (CSPD) and specific binding of the biotin-labeled probe was subsequently visualized by a chromogenic substrate (TMB).

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency.

Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.

Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination.

[Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction].

The various conditions which can lead to elevated blood phenylalanine (PHE) levels must be differentiated promptly in the neonatal period so that the correct treatment can be implemented as soon as possible. In order to exclude the rare tetrahydrobiopterin (BH4) deficiency, it is advisable to perform a BH4 loading test and to determine the renal excretion of pterins, as well as the dihydropteridine reductase activity in erythrocytes. The practical consequence of differentiating the various types of PHE hydroxylase deficiency is that with both phenylketonuria (PKU; PHE greater than 20 mg/dl) and hyperphenylalaninemia (HPA) with PHE levels above 15 mg/dl a diet restricted in PHE is initiated, whereas HPA infants with PHE levels below 8 mg/dl are fed normally.

Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria.

A previous observation of decreased serum carnitine concentrations in phenylketonuria (PKU) was investigated in 169 patients either on a strict diet (n = 107; median: 8.1 years) or off diet (n = 62; median: 15.0 years).

[Treatment of glycogen storage diseases].

This overview shows the present state of the art in the treatment of glycogen storage diseases (GSD) illustrated by some characteristic courses of glucose-6-phosphatase deficiency (GSD type I) and of phosphorylase b-kinase deficiency (GSD type VIa). In the majority of our patients suffering from GSD type I the combination of nocturnal gastric drip feeding (GDF) using oligosaccharides with frequent daytime meals using high amounts of glucose, it's polymers and low amounts of uncooked starch is better accepted and more effective than a round the clock diet using high amounts of uncooked starch without the use of GDF. In one of three patients suffering from GSD type VIa dextro-thyroxine has been shown to be very effective concerning linear growth velocity, liver size, hyperlipidaemia and hypertransaminasaemia.