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BACKGROUND & AIMS: Malnutrition and sarcopenia coexist in older adults, yet they remain largely undiagnosed and untreated, despite available interventions. This study aimed to assess the prevalence, the coexistence of, and the association between malnutrition and sarcopenia in geriatric rehabilitation inpatients. METHODS: REStORing health of acutely unwell adulTs (RESORT) is an observational, longitudinal cohort of geriatric rehabilitation inpatients. The association between malnutrition, diagnosed according to the Global Leadership Initiative on Malnutrition (GLIM) criteria and sarcopenia according to the revised definition of the European Working Group on Sarcopenia in Older People (EWGSOP2) (no sarcopenia, probable sarcopenia, confirmed sarcopenia and severe sarcopenia) was determined using multinomial logistic regression analyses, adjusted for age, sex, comorbidities and cognitive impairment. RESULTS: Out of 506 geriatric rehabilitation inpatients, 51% were malnourished, 49% had probable sarcopenia, 0.4% had confirmed sarcopenia (non-severe) and 19% had severe sarcopenia. Malnutrition and probable sarcopenia and malnutrition and confirmed/severe sarcopenia coexisted in 23% and 13% of the 506 patients respectively. Malnutrition was not associated with probable sarcopenia (OR = 0.91, 95% CI = 0.58-1.42, p = 0.674) but with severe sarcopenia (OR = 2.07, 95% CI = 1.13-3.81, p = 0.019). CONCLUSION: The prevalence, coexistence of, and the association between malnutrition and severe sarcopenia in geriatric rehabilitation inpatients warrant diagnosis at admission. Further research into feasible and effective interventions to counteract both conditions to improve geriatric rehabilitation outcomes is needed.

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BACKGROUND: Acquired rectourethral fistula (RUF) is an uncommon complication mostly resulting from surgery or radiation. Standardization of the surgical management is lacking. The aim of this study was to report our experience with surgery for RUF. METHODS: This was a retrospective study of a prospectively maintained clinical database. The surgical strategy was tailored to complexity of RUF, presence of sepsis, history of radiation and residual urinary/fecal functionality. Outcomes measured were RUF closure and permanent fecal/urinary diversion. Impact of radiotherapy was also assessed. RESULTS: Between November 2002 and January 2019, 52 patients were identified (100% males). Median follow-up was 10.5 (0.5-16.8) years. Three patients had RUF closure after conservative management. The remaining 49 patients had a total of 76 procedures. The cumulative closure rate after the first, second and third attempt was 55.1%, 85.7% and 95.9%, respectively. Fistula closure together with preservation of the fecal and urinary function was achieved in 49%, 65.3% and 67.3% after the first, second and third repair, respectively. The overall success rate for transanal, transperineal, restorative transabdominal and non-restorative transabdominal procedures was 35.7%, 64.3%, 57.1% and 94.1%, respectively. A significantly higher rate of urinary/intestinal stomas was observed in the irradiated vs non-irradiated patients (84.2% vs 42.4%; p = 0.004). CONCLUSIONS: Surgery ensured healing in 96% of the patients. Radiotherapy led to higher rate of permanent urinary/fecal diversion. Nearly all irradiated patients who had transabdominal repair end up with a definitive stoma. When transperineal repair with gracilis flap interposition was used, the rate of fistula closure approached 90%. A treatment algorithm is proposed.

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Conventional diagnosis of infectious diarrhea caused by bacteria is time-consuming, labor-intensive, and has a suboptimal sensitivity. We have therefore developed a multiplex real-time polymerase chain reaction (PCR) for the simultaneous detection of Campylobacter jejuni, Salmonella spp., Shigella spp./enteroinvasive Escherichia coli (EIEC), and Yersinia enterocolitica in fecal samples. No cross reactivity between the different pathogens was observed, and the multiplex setup of the assay did not have an impact on the sensitivity of the PCR. The analytical sensitivity was 87 CFU/mL for C. jejuni, 61 CFU/mL for Shigella spp./EIEC, 5,528 CFU/mL for Salmonella spp., and 1,306 CFU/mL for Y. enterocolitica. An extensive validation of the assay was performed by testing 1,687 patient samples by both PCR and with conventional techniques. The use of PCR increased the overall clinical sensitivity from 78 to 100 % (p < 0.0001), the specificity was 99.4 % for the PCR, compared with 99.9 % for conventional culture. The novel PCR assay allows for rapid, sensitive, inexpensive, and high-throughput testing of the most common bacterial causes of gastroenteritis.

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The properties of 9 delta-aminolevulinate dehydratase (ALAD) mutants from patients with ALAD porphyria (ADP) were examined by bacterial expression of their complementary DNAs and by enzymologic and immunologic assays. ALADs were expressed as glutathione-S-transferase (GST) fusion proteins in Escherichia coli and purified by glutathione-affinity column chromatography. The GST-ALAD fusion proteins were recognized by anti-ALAD antibodies and were enzymatically active as ALAD. The enzymatic activities of 3 ALAD mutants, K59N, A274T, and V153M, were 69.9%, 19.3%, and 41.0% of that of the wild-type ALAD, respectively, whereas 6 mutants, G133R, K59N/G133R, F12L, R240W, V275M, and delTC, showed little activity (< 8%). These variations generally reflect the phenotype of ALAD in vivo in patients with ADP and indicate that GST-ALAD fusion protein is indeed useful for predicting of the phenotype of ALAD mutants. The location of F12L mutation in the enzyme's molecular structure indicates that its disturbance of the quaternary contact of the ALAD dimer appears to have a significant influence on the enzymatic activity. Mouse monoclonal antibodies to human ALAD were developed that specifically recognized a carboxy terminal portion of ALAD, or other regions in the enzyme. This study represents the first complete analysis of 9 mutants of ALAD identified in ADP and indicates the highly heterogeneous nature of mutations in this disorder.

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Cloning, expression, and genotype studies of the defective gene for delta-aminolevulinate dehydratase (ALAD) in a patient with an unusual late onset of ALAD deficiency porphyria (ADP) were carried out. This patient was unique in that he developed the inherited disease, together with polycythemia, at the age of 63. ALAD activity in erythrocytes of the patient was less than 1% of the normal control level. ALAD complementary DNA (cDNA) isolated from the patient's Epstein-Barr virus (EBV)-transformed lymphoblastoid cells had 2 base transitions in the same allele, G(177) to C and G(397) to A, resulting in amino acid substitutions K59N and G133R, respectively. It has been verified that the patient had no other ALAD mutations in this and in the other allele. By restriction fragment length polymorphism (RFLP) analysis, all family members of the proband who had one-half ALAD activity compared with the ALAD activity of the healthy control were shown to have the same set of base transitions. Expression of ALAD cDNA in CHO cells revealed that K59N cDNA produced a protein with normal ALAD activity, while G133R and K59N/G133R cDNA produced proteins with 8% and 16% ALAD activity, respectively, compared with that expressed by the wild type cDNA. These findings indicate that while the proband was heterozygous for ALAD deficiency, the G(397) to A transition resulting in the G133R substitution is responsible for ADP, and the clinical porphyria developed presumably due to an expansion of the polycythemic clone in erythrocytes that carried the mutant alad allele.

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The ADVIA (Bayer) haematological system differentiates leukocytes by their volume and their peroxidase (MPO and EPO) activity. It thus allows specific counting of the eosinophils and detection of totally EPO and MPO deficient individuals. EPO activity is determined by the coordinates of the eosinophil cluster on the outprint. A reliable method of quantitation by simple angle measure is suggested. It allows recognition of partial deficiencies. Among approximately 100,000 persons, 29 cases of total EPO deficiency were detected. No typical or specific pathology of the defect was noted. Family studies showed heterozygous parents and offspring to be partially deficient. The frequency of these partial deficiencies in the general population is studied. The results exclude a simple autosomal recessive monogenic transmission of the defect. A model for bigenic transmission is suggested.

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The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is caused by an incapacity of plasmatic hypotonia to inhibit antidiuretic hormone (ADH) secretion. This phenomenon leads to a water retention and an expanded extracellular fluid volume, and secondary to a dilution of plasmatic sodium and also to a renal loss of sodium. The SIADH is a relatively rare syndrome, which may occur in various circumstances: central nervous system diseases, cancers, infections... Sometimes, it may be observed as a drug-related side effect: carbamazepine, chlorpropamide, antidepressors, anticancer drugs are particularly involved.

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The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.

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The parasitologic investigation performed without clinical orientation in a routine laboratory allowed to identify the most common parasites, often cysts of protozoa, using a minimal technique. A more accurate investigation (e.g.: concentration, extraction and flotation) was hampered by a too large number of systematic specimens. The use of an immersion objective improves the detection and identification of cysts of protozoa. There is still some controversy on the virulence of small amoebae, flagellates, Blastocysts and Entamoeba coli, the infection being often massive. AIDS should predispose to new parasitic diseases such as cryptosporidiosis and strongyloidosis. A careful examination of stools for parasites has become mandatory in view of the wide geographical origin of patients with a parasitic disease.

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Adequate storage of polymorphonuclear leukocytes would allow an easier in vitro study of their structure and their functions, an easier study of polymorphonuclear leukocyte diseases (e.g. chronic granulomatous disease) and an easier use of polymorphonuclear leukocytes as a clinical tool (e.g. for localizing infections). Unfortunately, polymorphonuclear leukocytes are nearly impossible to preserve, even in short-term storage. This study proposes a model for the study of polymorphonuclear leukocyte storage in a synthetic medium: Plasmion. For storage over a period of 24 h, we found that supplementation with each of the following additives: bicarbonate buffer, glucose, adenosine triphosphate (ATP), ascorbic acid, nicotinamide adenine dinucleotide (NADH), nicotinamide adenine dinucleotide phosphate (NADPH), alpha-tocopherol acetate, amikacin and ampicillin, significantly improves (p less than 0.05) one or several functions of the polymorphonuclear leukocytes. When samples were stored for 48 h, we found that the addition of bicarbonate buffer after 24 h significantly improves the maintenance of several functions of polymorphonuclear leukocytes, in particular chemotaxis. Preservation for 96 h was achieved by making additions of supplements on each day of storage, with a chemotaxis maintenance of 83% at 24 h, 59% at 48 h, 46% at 24 h and 20% at 96 h. In conclusion, by using the Plasmion medium, and adding the above-mentioned compounds on each day of storage, chemotaxis can be satisfactorily maintained over 4 days.

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Antiplatelet agents are indicated in the prophylactic treatment of certain thromboses, and in particular those due to a complication of atherosclerosis. Acetylsalicylic acid is the best-known, the most commonly used and, probably, the currently most effective agent. The dosage remains controversial; yet, a mean dose of 300 mg daily appears to be recommended nowadays. Ticlopidine and, to a lesser extent, dipyridamole can also be used for this treatment. However numerous contra-indications, such as haemorragic diathesis, surgery and gastric ulcers tend to limit their use. As regards the combination of antiplatelet agents, clinical studies do not show superior efficacy as compared with acetylsalicyclic acid alone.

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Activities of delta-aminolevulinic acid (ALA) dehydratase and porphobilinogen (PBG) deaminase, and haem content were determined in EB-virus transformed lymphocytes from two patients with homozygous ALA dehydratase deficiency, and their family members to determine the expression of the specific gene defect in this cell type. ALA dehydratase activity, but not PBG deaminase activity or haem content, was markedly decreased in lymphocyte preparations from both patients with homozygous enzyme deficiency, and moderately decreased in subjects heterozygous for enzyme deficiency. Immunochemical quantitation of erythrocyte ALA dehydratase suggested the presence of a cross-reactive material in a patient with a late-onset of acute hepatic porphyria due to the homozygous enzyme deficiency.

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Porphyria cutanea tarda is a disorder of porphyrin metabolism that results from a deficiency of uroporphyrinogen decarboxylase, resulting in a characteristic pattern of porphyrin excretion. Elevated serum iron values are frequently observed among patients with porphyria cutanea tarda. The hypothesis has been advanced that a hemochromatosis allele is implicated in the clinical manifestation of porphyria cutanea tarda. We report the case of a patient suffering from both idiopathic hemochromatosis and porphyria cutanea tarda. The data of the medical literature concerning such an association are discussed.

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An efficient granulocytes preservation would allow an easier study of their structure and functions, of granulocytes functional diseases (e.g. chronic granulomatous disease) and an easier use of granulocytes as a clinical tool (e.g. for localizing infections or for transfusions). Unfortunately, granulocytes are nearly impossible to preserve, even in a short-term storage (less than 24 hours). This study proposes an experimental model which could improve in vitro granulocyte functions maintenance. Bicarbonate buffer, glucose, adenosine triphosphate, vitamins C and E, nicotinamide adenine dinucleotide, nicotinamide adenine dinucleotide phosphate, amikacin, and ampicillin supplementation significantly (p 0.05) improve maintenance of one or several granulocyte functions during storage.

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Granulocytes transfusions set numerous problems and are less and less used. The very short maintenance of the granulocyte functions (chemotaxis) limits their use are a clinical tool (e.g. for localizing infections and for transfusions). Neither granulocyte collection by centrifugation methods (continuous or discontinuous flow) nor glucocorticoid premedication significantly alter granulocytes functions (in particular chemotaxis). Liquid preservation methods give better results than cryogenic methods. Optimal storage parameters are a temperature of 22 degrees C and a pH level close to 7.4. Chemotaxis is the most sensitive indicator of granulocyte damages in connection with storage. Bicarbonate buffer, glucose, proteins and reducing agents supplementation significantly improve chemotaxis maintenance. Cryogenic methods are less studied and less used. They allow storage of only little amounts of granulocytes. In conclusion, efficient granulocyte storage (over several days) would allow an easier use of these cells in many fields, but unfortunately, no solution is yet available.

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A man without a history of porphyric attacks developed a subacute motor neuropathy at the age of 63. At the same time the first signs of a myeloproliferative disorder were found. He had a homozygous deficiency of erythrocyte delta-aminolevulinic acid dehydratase (ALA-D) with autosomal recessive inheritance. Treatment with parenteral glucose and with hematin had a beneficial influence on the plasma ALA levels. The finding of a motor neuropathy with increased plasma levels of ALA but not of porphobilinogen (PBG) supports the potential role of ALA in the pathogenesis of porphyric neuropathy.

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