Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

Post-COVID-19 syndrome in a cohort of hospitalized COVID-19 patients.

OBJECTIVE: The study aimed to investigate the frequency of post-COVID-19 syndrome and associated factors in patients who visited the post-COVID-19 outpatient clinic after hospital discharge in the first, third, and sixth months of the first year of the pandemic. PATIENTS AND METHODS: The study was a clinical cohort study of patients hospitalized due to COVID-19. The modified British Medical Research Council (mMRC) Dyspnea Scale, the Clinical Frailty Scale (CFS), the Mini Nutritional Assessment short-form (MNA-SF), and the Malnutrition Universal Screening Tool (MUST) were evaluated using a standard form and symptom interview by a specialist physician. RESULTS: Of the 254 patients in the study group, 50.4% were women, and their ages ranged from 18 to 85 years, with a mean (SD) of 55.3±11.5. Post-COVID-19 syndrome was diagnosed in 57.5% of the patients. It was found that the frequency of some of the symptoms persisted and increased in the first month, decreased significantly in the third month, and did not differ between the third and sixth months. Body mass index (BMI), MNA-SF, MUST, and CFS improved over time. Multiple logistic regression analysis showed that the risk of the post-COVID-19 syndrome was 1.91- and 1.40-fold higher in patients with severe COVID-19 and patients with more symptoms in the first month, respectively. CONCLUSIONS: COVID-19 is not a short-term infectious disease but an infectious disease with long-term effects. Cohorts of patients who are still symptomatic at the end of the first month after severe COVID-19 should be followed up for a longer period and their clinical outcomes monitored.

Investigation of long-term COVID-19 patients' quality of life and affecting factors: Data from single COVID-19 follow-up center.

Background: Patients with COVID-19 experienced changes in their quality of life. However, far less is known about how quality of life changes in long-term COVID-19 follow-ups. Aim: This article aims to explore the relationship between quality of life change and long-term COVID-19 patient status in the COVID-19 follow-up center. Patients and Methods: This study was designed retrospectively with patients admitted to the COVID-19 follow-up center between January and May 2021. The single group consisted of 125 patients. Their status and 36-Item Short-Form Health Survey (SF-36) variables were compared at two different time intervals. The first admission indicates the first 3 months, and the second admission covers 3-6 months after being diagnosed with COVID-19. Results: Cough and chest pain increased in the second admission (P < 0.001). No significant differences were found in SF-36 change according to age. The general health subgroup scores were lower in females than males (P = 0.004). The SF-36 Form's subgroups for physical function, physical role, emotional role, bodily pain, energy, mental health, general health, and social function showed improvement (P = 0.001, P = 0.001, P = 0.026 P < 0.001, P = 0.007, P = 0.031, P <0.001, P <0.001, respectively). In addition, comparing with the SF-36 subgroups in terms of treatment places, a significant result was found between the inpatient and intensive care unit (ICU) in the general health subgroup (P = 0.044). Conclusions: The results show that quality of life may worsen during follow-up for COVID-19. In summary, these findings have significant implications for understanding long-term COVID-19 patients with a multidisciplinary approach and the necessity of follow-up centers to detect the unpredictable results of long-term COVID-19.

Human milk antibiotic residue levels and their relationship with delivery mode, maternal antibiotic use and maternal dietary habits.

OBJECTIVE: It is important to identify undesirable toxins and metabolites present in human milk that may be passed on to nursing infants. Such residues may derive from the antibiotics that are widely used to treat infectious diseases in both humans and food-producing animals. To the best of our knowledge, there are no reports in the literature on human milk antibiotic residue levels. PATIENT AND METHODS: As a part of the Human Milk Artificial Pollutants (HUMAP) study, we aimed to evaluate human milk antibiotic residues among mothers with 7 to 90-day-old babies. Pregnant women who had received antibiotic treatment during pregnancy were excluded. The use of antibiotic prophylaxis with cefazoline sodium during labor was noted among the study subjects. Human milk antibiotic residues were evaluated with the InfiniPlex for Milk Array (Randox Laboratories, London, United Kingdom), a semi-automated system with a multi-array biochip designed to detect antibiotic residues and toxins. RESULTS: The HUMAP study included 83 mothers, ranging in age from 17 to 41 years (mean 29.7 ± 6.2 years). Of these, 59% received cefazoline sodium shortly after birth, while 41% did not receive any antibiotics during the pregnancy, delivery or lactational periods. Testing revealed that 71/83 (85.5%) human milk samples were positive for beta-lactams and 12 (14.5%) samples were positive for quinolones. There was no difference in maternal age, gestational week, delivery type, sampling time, maternal dietary habits between the mothers with quinolones or beta-lactam residues in their milk and those without (p > 0.05 for both). Beta-lactam and quinolone residues were detected in 85.7% and 23.5%, respectively, of the human milk samples of mothers who did not receive antibiotics at birth and/or during the first seven days after birth. CONCLUSIONS: We found that the majority of human milk samples included beta-lactams or quinolones, even though the mothers did not receive these antibiotics during pregnancy and lactation. Antibiotic residues in human milk may affect early maintenance of the intestinal microbiota. Previous studies have shown that antimicrobials in food might increase the risks of allergies and could lead to the development of antibiotic-resistant bacterial strains. Effective policies on food safety and appropriate antibiotic use during pregnancy and lactation are needed.

Tuberculous osteomyelitis: an unusual case of tuberculous infection in a child undergoing continuous ambulatory peritoneal dialysis.

A 10-year-old boy on continuous ambulatory peritoneal dialysis had low-grade fever, pain and tenderness of the right shoulder; he had no history of infection or exposure to tuberculosis. The underlying granulomatous infection was diagnosed by histological examination of bone and the polymerase chain reaction with primer sequences specific for Mycobacterium tuberculosis. Special stains and cultures were negative. The initiation of antituberculous therapy was followed by a sharp improvement in the fever, malaise and shoulder pain within several weeks. Extrapulmonary tuberculosis is common in patients with chronic renal failure on dialysis and the diagnosis is difficult. The clinician must recognise the high and early mortality rate in order to initiate an aggressive diagnostic approach and early therapy.