Larger antelopes are sensitive to heat stress throughout all seasons but smaller antelopes only during summer in an African semi-arid environment.

Heat stress can limit the activity time budget of ungulates due to hyperthermia, which is relevant for African antelopes in ecosystems where temperature routinely increases above 40 °C. Body size influences this thermal sensitivity as large bodied ungulates have a lower surface area to volume ratio than smaller ungulates, and therefore a reduced heat dissipation capacity. We tested whether the activity pattern during the day of three antelope species of different body size-eland, blue wildebeest and impala-is negatively correlated with the pattern of black globe temperature (BGT) during the day of the ten hottest days and each season in a South African semi-arid ecosystem. Furthermore, we tested whether the larger bodied eland and wildebeest are less active than the smaller impala during the hottest days and seasons. Our results show that indeed BGT was negatively correlated with the diurnal activity of eland, wildebeest and impala, particularly during summer. During spring, only the activity of the larger bodied eland and wildebeest was negatively influenced by BGT, but not for the smallest of the three species, the impala. We argue that spring, with its high heat stress, coupled with poor forage and water availability, could be critical for survival of these large African antelopes. Our study contributes to understanding how endothermic animals can cope with extreme climatic conditions, which are expected to occur more frequently due to climate change.

Post COVID-19 Pandemic Increased Detection of Mycoplasma Pneumoniae in Adults Admitted to the Intensive Care.

Background: Mycoplasma pneumoniae (M. pneumoniae) infections can progress to severe respiratory complications, necessitating intensive care treatment. Recent post COVID-19 pandemic surges underscore the need for timely diagnosis, given potential diagnostic method limitations. Methods: A retrospective case series analysis was conducted on M. pneumonia PCR-positive patients admitted to two Dutch secondary hospitals' ICUs between January 2023 and February 2024. Clinical presentations, treatments, outcomes, and mechanical ventilation data were assessed. Results: Seventeen ICU-admitted patients were identified, with a median age of 44 years, primarily due to hypoxia. Non-invasive ventilation was effective for most, while five required invasive mechanical ventilation. None of the patients required extracorporeal membrane oxygenation. No fatalities occurred. Post-PCR, treatment was adjusted to doxycycline or azithromycin; seven received steroid treatment. Discussion: Increased ICU admissions for M. pneumoniae infection were observed. Diverse clinical and radiological findings emphasize heightened clinical awareness. Early molecular diagnostics and tailored antibiotic regimens are crucial since beta-lactam antibiotics are ineffective. Conclusion: This study highlights the escalating challenge of severe M. pneumoniae infections in ICUs, necessitating a multifaceted approach involving accurate diagnostics, vigilant monitoring, and adaptable treatment strategies for optimal patient outcomes.

HSF is the most important transcriptional factor for porcine MC4R promoter.

The melanocortin-4 receptor (MC4R) is involved in feed intake regulation. It is significantly associated with growth and fatness traits in most breeds and crosses. To understand the essential transcriptional regions of the porcine MC4R promoter, eleven primer pairs were designed to amplify different segment lengths of the MC4R promoter. The PCR products were then ligated along with the Firefly luciferase reporter gene into the PGL3-basic vector. The results showed that a 90 bp fragment could contain the essential regions for control of transcription. Further research found that a short sequence "AGAAAGAAG" (the recognition site of transcription factor HSF) was the most important sequence for supporting activity of the pig MC4R promoter.

[Analysis of clinical characteristics of 126 children with recurrent intussusception].

Objective: To analyze and summarize the clinical features in children with recurrent intussusception. Methods: This retrospective cohort study collected the clinical data of 126 children with recurrent intussusception who were admitted to the Children's Hospital of Zhejiang University School of Medicine due to "abdominal pain, paroxysmal crying, vomiting, bloody stools" from January 1, 2015 to November 30, 2019. The clinical manifestations of recurrent intussusception between ≤3 years old group and >3 years old group were compared, the etiology and age characteristics of pathologic lead points (PLP) were analyzed, and the clinical characteristics of PLP group and non-PLP group were also compared. The χ2 test and Mann-Whitney U test were used to compare the differences between groups. Results: A total of 126 children with recurrent intussusception were included, of whom 76 were males and 50 were females, with the age of 2.9 (1.7, 5.1) years. The proportion of children aged more than 1 year was 87.3% (110/126), and 48.4% (61/126) more than 3 years. Clinical manifestations mostly lacked the typical triad of symptoms. The percentage of paroxysmal crying in ≤ 3 years old group was significantly higher than that in >3 years old group (52.3% (34/65) vs. 24.6% (15/61), χ2=10.17, P=0.001), while the percentage of abdominal pain was significantly lower than that in the >3 years old group (46.1% (30/65) vs. 75.4% (46/61), χ2=11.25, P=0.001). The rate of positive ultrasound examination was 17.5% (22/126), and 63.6% (14/22) of them were diagnosed. The positive rate of CT examination was 4/13, of which 2 cases were diagnosed. In this study, 37 children were diagnosed with PLP by colonoscopy, laparoscopy or laparotomy, and 89 children were found without PLP. The positive rate of PLP in >3 years old group was significantly higher than that in ≤3 years old group (37.7% (23/61) vs. 21.5% (14/65), χ2=3.96, P=0.046). Meckel's diverticulum and juvenile polyp were the main contributors of PLP in ≤3 years old group, accounting for 7/14 and 3/14 respectively, while lymphoma and juvenile polyp accounted for 34.8% (8/23) and 26.1% (6/23), respectively in >3 years old group. Compared with non-PLP group, PLP group had higher age (5.2 (1.6, 6.7) vs. 2.7 (1.8, 4.2) years, Z=-2.26, P=0.01). However, there were no significant differences in gender and recurrence frequency between the two groups (both P>0.05). Conclusions: Recurrent intussusception is more common in children more than 1 year old, and has a wide spectrum of non-specific clinical presentations. Imaging examinations can be used to identify PLP. The most recurrent intussusception is idiopathic, but the presence of PLP should be alerted for, such as Meckel's diverticulum, lymphoma and juvenile polyp. Colonoscopy sometimes is necessary, surgical exploration and treatment should be carried out in time.

[Acute appendicitis or colon cancer? Difference in elderly patients not always clear]. / Acute appendicitis of coloncarcinoom?

Three elderly patients presented with acute abdominal pain in the right lower quadrant and leukocytosis. CT-imaging of the abdomen supported the suspicion of acute appendicitis. The patients underwent appendectomy. After pathological examination, two patients were found to have a colon carcinoma. The third patient had a normal appendix; however, adenocarcinoma of the cecum was found four weeks later. The patients underwent a second operation, a right hemicolectomy, within two months. In patients older than 65 years with symptoms of acute appendicitis, colon cancer should be considered in the differential diagnosis. Distinguishing between appendicitis and colon cancer based on clinical symptoms and imaging is difficult. However, this distinction is important for the prognosis and choice of surgical treatment. If no direct evidence of malignancy is present in elderly patients with symptoms of appendicitis, a colonoscopy should be performed postoperatively to exclude colon cancer.

Pre-slaughter sound levels and pre-slaughter handling from loading at the farm till slaughter influence pork quality.

This study investigates the relationship between sound levels, pre-slaughter handling during loading and pork quality. Pre-slaughter variables were investigated from loading till slaughter. A total of 3213 pigs were measured 30 min post-mortem for pH(30LT) (M. Longissimus thoracis). First, a sound level model for the risk to develop PSE meat was established. The difference in maximum and mean sound level during loading, mean sound level during lairage and mean sound level prior to stunning remained significant within the model. This indicated that sound levels during loading had a significant added value to former sound models. Moreover, this study completed the global classification checklist (Vermeulen et al., 2015a) by developing a linear mixed model for pH(30LT) and PSE prevalence, with the difference in maximum and mean sound level measured during loading, the feed withdrawal period and the difference in temperature during loading and lairage. Hence, this study provided new insights over previous research where loading procedures were not included.

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

BACKGROUND: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients are at risk for aortic dissection and/or severe ocular and orthopedic problems. The diagnosis is primarily based on a set of well-defined clinical criteria (Ghent nosology). The age-related nature of some clinical manifestations and variable phenotypic expression may hinder the diagnosis, particularly in children. Molecular analysis may be helpful to identify at-risk individuals early and start prophylactic medical treatment. FBN1 mutations have also been reported in patients with Marfan-related conditions, but it is unknown what proportion of all FBN1 mutation carriers they represent. METHODS: We reviewed the clinical and molecular data of 171 consecutive patients referred for FBN1 analysis because either MFS was diagnosed or they had signs suggestive of MFS. We compared the incidence of mutations in patients who fulfilled the clinical diagnostic criteria for MFS with those who did not. RESULTS: Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation. A significantly higher incidence of ectopia lentis was found in the patients with MFS with an FBN1 mutation vs those without (P=.04). Among the 77 patients who did not meet the criteria, an FBN1 mutation was found in 9 patients (12%). No correlation was found between the severity of the phenotype and the position and nature of the FBN1 mutation. CONCLUSIONS: This study showed a significant difference in the number of FBN1 mutations between patients fulfilling and those not fulfilling the diagnostic criteria for MFS, which seems to be a good predictor of the presence of an FBN1 mutation. A comprehensive clinical evaluation is mandatory before establishing a definitive diagnosis. An FBN1 mutation analysis is helpful to identify individuals at high risk for MFS who need careful follow-up, particularly in families displaying phenotypic variability and in children.

Pre-slaughter handling and pork quality.

Environmental variables, as sound levels, were collected during the pre-slaughter process in 18 different Belgian commercial slaughterhouses. Four pre-slaughter phases were determined: firstly after arrival of the truck at the slaughterhouse and just before unloading, secondly during unloading, thirdly at lairage and finally while moving to the stunner. A total of 8508 pigs was examined during the pre-slaughter process, of which the pH(LT) (M. longissimus thoracis), at 30 min post-mortem was measured. For each pre-slaughter phase, variables which might influence pork quality were determined. Moreover, this study made it possible to infer a checklist to represent and predict PSE traits of pork for all kind of pre-slaughter situations. The checklist shows also that the impact on pork quality is more decisive for the variables measured close to the stunning phase. Hence, this information is useful for the industry to optimize handling of pigs, reducing the risk for PSE traits.

Sound levels above 85 dB pre-slaughter influence pork quality.

This study investigates whether sound levels above 85 dB(A), determined in literature as a critical sound level to induce stress in pigs, has also an effect on the pH of pork. Sound levels were recorded during pre-slaughter phases. A measure was taken after the arrival of the truck at the slaughterhouse, during unloading, lairage and just before stunning. The pH of the Longissimus thoracis or lumborum, 30 min after sticking (pH(30LT)) was measured. 8508 pigs were examined and the pH was measured on the carcasses. The results show that the cut-off value of 85 dB(A) during the pre-slaughtering phase is not only a threshold to evaluate animal welfare but can also be associated with a slower drop of pH if sound levels are b85 dB(A). Finally a linear mixed model for pH(30LT) was built with the sound level during lairage and the sound level prior to stunning as independent variables, having statistically the highest impact on pH(30LT) of pork.

Pre-slaughter rectal temperature as an indicator of pork meat quality.

This study investigates whether rectal temperature of pigs, prior to slaughter, can give an indication of the risk of developing pork with PSE characteristics. A total of 1203 pigs were examined, measuring the rectal temperature just before stunning, of which 794 rectal temperatures were measured immediately after stunning. pH30LT (M. Longissimus thoracis) and temperature of the ham (Temp30Ham) were collected from about 530 carcasses, 30 min after sticking. The results present a significant positive linear correlation between rectal temperature just before and after slaughter, and Temp30Ham. Moreover, pH30LT is negatively correlated with rectal temperature and Temp30Ham. Finally, a linear mixed model for pH30LT was established with the rectal temperature of the pigs just before stunning and the lairage time. This model defines that measuring rectal temperature of pigs just before slaughter allows discovery of pork with PSE traits, taking into account pre-slaughter conditions.

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L-12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298-2A>G, 997+2T>A), and a mutation in the major transcription start site (-195C>T). Hum Mutat 15:293, 2000.

Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.

Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1 was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a lod score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.

Refined genetic and physical mapping of BPES type II.

BPES is a genetic disorder including blepharophimosis, ptosis of the eyelids, epicanthus inversus and telecanthus. Type I is associated with female infertility, whereas type II presents without other symptoms. Both types I and II occur sporadically or are inherited as an autosomal dominant trait. We present a molecular genetic and cytogenetic study in a large four-generation Belgian family with BPES type II. Karyotype analysis on high-resolution banded chromosomes yielded normal results. Fluorescence in situ hybridization (FISH) with cosmid probes spanning 3q22-q24 revealed normal hybridization patterns. Sixteen polymorphic CA repeats encompassing region 3q13-q25 were analysed. Linkage analysis in this large four-generation family provides conclusive evidence for the presence of a BPES gene in this region. Two-point lod scores greater than 3.0 between the disease and the following markers were seen: D3S1589 (4.67), D3S1292 (3.52), D3S1290 (3.59) and D3S1549 (3.65). By FISH, D3S1290, D3S1292 and D3S1549 were assigned to chromosome 3q23 using YACs positive for these markers.

On the variability of the Brachmann-de Lange syndrome in seven patients.

The results of the clinical and radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann-de Lange syndrome (BDLS) and reject the existence of a "classic" type of patient and a "mild phenotype" without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance.

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.

INTRODUCTION: In patients with chronic hepatitis C infection, the haptoglobin (Hp) 1-1 phenotype is overrepresented. Data regarding the occurrence of the Cys282Tyr missense mutation in these patients are less clear. We studied the prevalence of both variables in a cohort of patients with chronic hepatitis C and looked for interaction between the two variables. MATERIALS AND METHODS: The study group consisted of 142 patients chronically infected with the hepatitis C virus. All patients were examined for the occurrence of the Cys282Tyr missense mutation, and in 132 of them the Hp phenotype was determined. The Cys282Tyr missense mutation was detected by restriction fragment length polymorphism (RFLP) using a standard polymerase chain reaction (PCR) technique and RsaI digestion. Hp phenotypes were determined using starch gel electrophoresis of haemoglobin-supplemented serum followed by peroxidase staining. RESULTS: A significant overrepresentation of the Hp 1-1 phenotype was found (36/132, 27%, P < 0.01 v. control population). This overrepresentation was observed only in the patients homozygous for the wild-type allele of the HFE gene. The Cys282Tyr allele was significantly overrepresented in hepatitis C patients (0.12 v. 0.07, P < 0.05) and principally in patients with the Hp 2-1 and 2-2 phenotypes. CONCLUSION: In patients with chronic hepatitis C infection, both the Hp 1-1 and the Cys282Tyr allele occur more frequently than in a control population. Remarkably, these genes seem to determine each other's occurrence, such that the overrepresentation of the Hp 1-1 phenotype is seen only in Cys282Tyr-negative subjects, while the overrepresentation of the Cys282Tyr allele is observed in Hp 1-1-negative subjects. Differences in immunomodulating and in oxidative stress-inducing capacities between the two genes may explain this finding.

Cytogenetic evaluation of patients in relation to the use of oral contraception.

PIP: Chromosome damage was studied, in vivo and in vitro, in women using or having used oral contraceptives. Compared with those from a control group, no significant increase of numerical or structural abnormalities of metaphase chromosomes (n=149,599) was detected in phytohemoglutinin-stimulated lymphocytes after 72 hours of culturing. Limitations of the experimental method in this and other chromosome studies are discussed in detail.^ieng

Carrier screening for cystic fibrosis in a prenatal setting.

Maternal prenatal cystic fibrosis (CF) screening was offered from September, 1997, to April, 1999, at the Ghent University Hospital, to couples undergoing prenatal diagnosis (amniocentesis) for reasons not related to CF. Fifteen minutes were devoted to explaining CF, CF screening, and the study protocol. The purpose was to assess the short- and long-term knowledge of CF, the attitude towards carrier screening, and carriership. A total of 314 couples entered the pilot study; 13 female CF carriers were identified. None of their partners carried an identifiable mutation. Our survey results show that information about CF and CF screening can be given effectively as part of antenatal care because most couples recalled important medical and genetic issues, valued the genetic test for CF, and seemed to cope well with the results. Risk estimates and actual numbers were more difficult to process and recall. From the small number of couples in which the woman alone was found to be a carrier, there was little or no evidence of marked distress.

Genetic counseling of a couple presenting respectively terminal transverse defects and congenital arthrogryposis.

A 29-year-old woman consulted together with her husband for a problem of congenital joint contractures. Clinical findings in the woman were characteristic of "amyoplasia congenita". In view of the severe distal limb involvement, the possibility of a distal arthrogryposis was also considered. Unexpectedly, the husband presented terminal transverse defects, mainly of the feet, suggestive of Adams-Oliver syndrome, an autosomal dominant condition with variable expression. This discovery significantly altered the counseling given to the couple, i.e. they had to be given a high recurrence risk for congenital limb malformations in their offspring and rigorous echographic monitoring of future pregnancies was advised.