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OBJECTIVE: Both life expectancy and the proportion of the population in elderly are increasing. Therefore, the number of cases of acute appendicitis (AA) among the super-elderly population is increasing. In this study, it is aimed to find the correlations between morbidity and the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), albumin and prognostic nutritional index (PNI) in super-elderly patients. PATIENTS AND METHODS: In this retrospective study, we studied super-elderly patients (85 years old and above) who were operated on due to AA between January 2015 and January 2020 at a tertiary health center. After approval by the ethics committee, patients' preoperative, peroperative and postoperative data were collected. Patients were divided into two groups: the morbidity-positive (+) group and the morbidity-negative (-) group. The differences between the two groups regarding the parameters investigated were evaluated. RESULTS: 25 super-elderly patients were operated on for AA. There were 7 patients in the morbidity (+) group and 18 in the morbidity (-) group. The area under the curve (AUC) for NLR was 0.476 ([95% CI: 0.215-0.738]; p = 0.856), and the AUC for PLR was 0.444 ([95% CI: 0.193-0.696]; p = 0 .672). However, the AUC for PNI was 0.810 ([95% CI: 0.569-1.000]; p = 0.018), and the AUC for albumin was 0.845 ([95% CI: 0.601-1.000]; p = 0.008). At the cut-off value of 3.35 g/dL, albumin's sensitivity was 88.9% and its specificity was 85.7%. At the cut-off value of 38, PNI's sensitivity was 94.4% and its specificity was 71.4%. CONCLUSIONS: The present study found that PNI and albumin values can be used as prognostic factors and have high sensitivity and specificity. Therefore, this study is a leader study in identifying prognostic factors for AA that can be used in the super-elderly geriatric population. However, the possibility of statistical error should be minimized by conducting studies involving more patients. [ABSTRACT FROM AUTHOR]

Necrotising fasciitis (NF), which can develop in any part of the body, is a serious and life-threatening rapidly progressive infection. In this case report, a case of NF located at a Pfannenstiel incision is presented and the treatment process of the patient is discussed. A 39-year-old primiparous woman who had a diagnosis of superimposed pre-eclampsia was admitted to the emergency department with an eclampsia attack at 32 weeks of her pregnancy. Her medical history included diabetes mellitus and hypertension. An emergency caesarean section was performed. The patient was discharged on the 3rd day of her caesarean section without complications. On the 7th day of discharge, the patient fell in the bathroom. The patient was admitted to the emergency department on the second day of the fall due to foul-smelling discharge and wound dehiscence at the incision site. The patient was referred to the general surgery clinic and underwent emergency surgery by general surgeons with the diagnosis of NF. All necrotic tissues were removed until clean surgical margins were reached. Daily wound debridement was performed. On the 4th day of debridement, vacuum-assisted closure (VAC) treatment was started. After six sessions of VAC treatment, the patient's wound was completely closed. [ABSTRACT FROM AUTHOR]

To understand the effects of island and mainland on life history traits (e.g. longevity, age at maturity, body size and body mass) of the smooth newtLissotriton vulgaris(Linnaeus, 1758), we generated data on age and body measurements for an island (Bozcaada) and a mainland (Çanakkale) population in northwestern Turkey. Age was determinated by skeletochronology. The maximum life span was 4 years in the island population and 5 years in the mainland population. Age at maturity was estimated to be 2–3 years for both sexes and the populations. While mean snout-venth length (SVL) was calculated as 35.56 mm for females and 31.95 mm for males in the mainland population, it was found to be 32.83 mm for females and 31.78 mm for males in the island population. Females from the mainland population were found to be significantly larger and heavier than those of the island population. A significant positive correlation was found between SVL and age for only males in the mainland population. Unexpectedly, age was not correlated with body size for the island individuals. Since there were hardly any demographic studies on any Urodela species comparing island and mainland populations, in this paper wecontributeto theliteratureon this subject. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The first-line antituberculous agents for use during pregnancy have minimal teratogenic effects. The possibility of limb deformity during rifampin use, however, was reported by some researchers. CASE REPORT: A male newborn was born with a hypoplastic right forearm to a mother with tuberculosis who used isoniazid and rifampicin in the first two months of her pregnancy. CONCLUSIONS: The limb anomaly in our case might be attributed to rifampicin usage during the first 2 months of pregnancy. Caution should be given with regard to possible congenital malformations which could be associated with the treatment of pregnant women with antituberculous drugs. [ABSTRACT FROM AUTHOR]

Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic FAN1 (FANCD2/FANCI-Associated Nuclease 1) gene variants. In FAN1-related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with FAN1-related KIN in various studies. We report the case of a 35-year-old male with chronic kidney disease of unknown aetiology, concurrent recurrent upper and lower respiratory tract infections, and elevated liver function test results with unidentified aetiology. The patient's family history was remarkable for consanguineous parent marriage and history of kidney transplantation in his aunt. A kidney biopsy was performed, which was consistent with KIN. Clinical exome sequencing revealed a homozygous nonsense variant NM_014967.5 (FAN1): c. 2260C > T (p.Arg754Ter). According to the American College of Medical Genetics (ACMG) criteria, this variant is pathogenic and, to the best of our knowledge, has not been previously reported, homozygously. Therefore, the histopathological and clinical diagnoses of KIN were confirmed by genetic studies in our patient. This case report expands the genetic spectrum of FAN1-related KIN, and briefly reviews the current literature data., (© 2024 Asian Pacific Society of Nephrology.)

Introduction: Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life., Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected., Results: Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intrafamily expression of CREBL3- and P3H1-related OI., Conclusion: Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetics, and postmortem evaluation., (© 2024 S. Karger AG, Basel.)

The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD-associated mutations typically cause unstable mutant proteins involved in various steps of gene expression, severely reducing steady-state mutant protein levels. However, to date, no such link to instability of gene-expression factors for TTD-associated mutations in MPLKIP/TTDN1 has been established. Here, we present seven additional TTD individuals with MPLKIP mutations from five consanguineous families, with a newly identified MPLKIP variant in one family. By mass spectrometry-based interaction proteomics, we demonstrate that MPLKIP interacts with core splicing factors and the lariat debranching protein DBR1. MPLKIP-deficient primary fibroblasts have reduced steady-state DBR1 protein levels. Using Human Skin Equivalents (HSEs), we observed impaired keratinocyte differentiation associated with compromised splicing and eventually, an imbalanced proteome affecting skin development and, interestingly, also the immune system. Our data show that MPLKIP, through its DBR1 stabilizing role, is implicated in mRNA splicing, which is of particular importance in highly differentiated tissue., (© 2023 The Authors. Published under the terms of the CC BY 4.0 license.)

Background: Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features., Case Presentation: We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26)., Conclusions: Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals., (© 2023. The Author(s).)

Objective: To investigate the clinicopathological factors affecting mucins (MUC 1, MUC 2, and MUC 5AC) staining in patients who underwent resection for colorectal cancer., Study Design: An observational study. Place and Duration of the Study: Department of General Surgery and Department of Pathology, Kafkas University Faculty of Medicine, Kars, Turkey, between January 2020 and January 2021., Methodology: Patients operated on for colorectal adenocarcinoma were included in the study. Patients who underwent colorectal surgery for benign diseases or had a pathological diagnosis other than adenocarcinoma were excluded from the study. Clinicopathological factors affecting MUC1, MUC2, and MUC5AC staining were evaluated with appropriate statistical tests, assuming a significant p-value of less than 0.05., Results: Of the 30 patients who met all study criteria, 18 (60%) were males. The mean age of all patients was 62.83±16.79 (21-88). MUC1 strongly positive staining was observed in 18 (60%) cases, and high expression was detected in pT4 and pT3 cases (p=0.005). In addition, increased expression was also noted in cases with lymph node involvement (p=0.045). MUC2 expression was more than 60% (strongly positive) in 20 (66.7%). The MUC2 expression was increased in moderately differentiated cases (p=0.032). There was no staining (negativity) in 22 (73.3%) cases with MUC5AC, and more than 60% staining (strongly positive) was observed in 3 (10%) cases. In addition, strong expression was noted in rectosigmoid tumours (p=0.001), female patients (p=0.046), and patients with pT3 and pT4 tumours (p=0.05)., Conclusion: High MUC1 and high MUC5AC staining were observed in advanced colorectal cancer, whereas high MUC2 staining was observed in patients with moderate tumour differentiation., Key Words: Colorectal cancers, Gene expressions, Mucin.

Fraser syndrome (FS) is a rare multiple malformation disorder characterized by cryptophthalmos, characteristic craniofacial dysmorphism, cutaneous syndactyly, malformations of the respiratory and urinary tract, and anogenital anomalies. Although the characteristic presentation of FS can be detected prenatally, oligohydramnios often challenges the clinical diagnosis. Here we report on the atypical prenatal and postmortem findings of a fetus with FS caused by a novel homozygous frameshift variant in FREM2. Our study highlights the variable manifestations of the FS and expands the clinical spectrum to include popliteal pterygium and structural central nervous system anomalies., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

In 2019, the global Coronavirus (COVID-19) pandemic and associated prevention measures affected the mental health and psychological well-being of young people with and without a migratory background. The present study aimed to compare the mental health and psychological well-being of migrant and non-migrant young people before and after the COVID-19 vaccination campaign period in two countries which had different policies to deal with the pandemic. The "Psychological General Well-being" of young people and their experiences during the pandemic were investigated using an anonymous online survey during two pandemic waves before the vaccination campaign and 6 months after its start. A majority of the 6154 participants (aged between 15 and 25 years in all study groups) reported a decrease of mental health from the time period before the vaccination (BV) to after the vaccination (AV) campaign ( b  = 0.27, p  < .001). This association was higher in females ( b  = 0.04, p  = 0.008) and in youth with financial problems ( b  = 0.13, p  < .001). Furthermore, this decrease was more pronounced in people ≤17 years old (40% to 62%) than in those >17 years (59% to 67%). Contrary to expectation, vulnerable groups such as the economically disadvantaged, younger, and female participants did not experience a significant easing of the pandemic's psychological burden AV. Vaccination campaigns should continue emphasizing the beneficial effects of COVID-19 vaccination on general well-being, but with an acknowledgement that the road to recovery is still a long one. Concurrently, free access to psychological treatment and financial support should be offered, especially for vulnerable groups., Supplementary Information: The online version contains supplementary material available at 10.1007/s12144-023-04366-x., Competing Interests: Conflict of interestAll authors declare no competing interest. T.W.: No conflict of interest. I had been invited to comment on the original proposal by the donor, but I see no conflict of interest as I receive no funding or any renumeration myself. I only participated as independent advisor and in writing of the final paper based on a request to WPA section. I do not work in the same department as the other authors., (© The Author(s) 2023.)

Heme oxygenase-1 (HMOX-1) is an enzyme that regulates heme degradation. Antiinflammatory, antioxidant, and cytoprotective effects of HMOX-1 were also described. It is encoded by the HMOX1 gene, and biallelic mutations cause HMOX-1 deficiency, which is a rare chronic multisystemic inflammatory disorder. This inflammatory status could lead to the development of secondary AA-type amyloidosis theoretically. Here, we report a 30-year-old male with AA-type renal amyloidosis due to a chronic inflammatory condition of unknown origin. Paternal consanguinity and dysmorphic features raised suspicion of a rare genetic disorder. Clinical exome sequencing (CES) confirmed the HMOX-1 deficiency diagnosis related to homozygous missense G139V mutation. To the best of our knowledge, our patient is the eleventh HMOX-1 deficiency case in the literature. Also, HMOX-1 deficiency-related systemic AA-type amyloidosis has not been reported before., (© 2022. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).)