Alzheimer\'s disease (AD) is the most common type of cognitive impairment in the elderly. In this report, we presented a case of a 52-year-old woman with rapid disease progression within 6 months. She was diagnosed with mild dementia according to the clinical symptoms and neuropsychological assessment results. Based on the results of neuropathological proteins in cerebrospinal fluid, cranial magnetic resonance imaging, and positron emission tomography/computed tomography, the patient showed the presence of β amyloid deposition, pathologic tau along with neurodegeneration [A+T+(N+)], indicative of AD. Whole exome sequencing revealed a heterozygous C-to-T missense mutation of nucleotide 3,755 (c.3755C > T) in exon 25 of the angiotensin converting enzyme (ACE) gene on chromosome 17q23 (rs762056936).

Serum gamma-glutamyltransferase (GGT) activity has been proposed as a promising predictor of atherosclerosis-related complications and a prognostic marker for cardiovascular diseases. The objective of this study was to investigate the potential correlation between serum levels of GGT and early-onset coronary artery disease (EOCAD).
A retrospective, hospital-based case-control study was conducted, which included 860 patients with EOCAD and gender- and age-matched controls. Serum levels of GGT were measured using the reference measurement procedure on an automatic biochemistry analyser.
The serum GGT levels of patients with EOCAD (34.90 ± 31.44 U/L) were significantly higher than those of the control group (21.57 ± 16.44 U/L, p < .001). Elevated serum levels of GGT were found to be an independent risk factor for EOCAD, with an odds ratio (OR) of 1.021 (95% confidence interval (CI): 1.014-1.029). Additionally, for every quartile increase in serum GGT levels, the risk of developing EOCAD increased by 1.6-fold. Moreover, serum GGT levels were significantly associated with disease severity, with lower GGT levels observed in patients without significant vascular disease (31.74 ± 24.06 U/L) compared to those with two-vessel disease (33.06 ± 25.00 U/L, p = .002) and three-vessel disease (37.75 ± 36.76 U/L, p = .001).
The results of this study suggest that elevated serum GGT levels are associated with the development of EOCAD, and GGT may be implicated in the pathogenesis of the disease. Further large-scale prospective studies are needed to explore the potential relationship between serum GGT levels and the dynamic development of EOCAD.

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This report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This case describes a pediatric female who was diagnosed with early-onset schizophrenia and catatonia in her early adolescence, and was later found to have DLG4-related synaptopathy, also known as SHINE syndrome. SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene. After failing three antipsychotic drug treatments, the patient was started on clozapine, which resulted in significant improvements in positive and negative symptoms. This case illustrates the impact of clozapine in treatment-resistant early-onset psychosis and exemplifies practical implications for genetic testing in early-onset schizophrenia.

UNASSIGNED: Early-onset colorectal cancer has risen worldwide, leaving more women with colorectal cancer at reproductive ages. We aimed to investigate the risk of adverse pregnancy and neonatal outcomes among women with early-onset colorectal cancer.
UNASSIGNED: We conducted a nationwide, matched case-control study of maternal/pregnancy outcomes including pre-eclampsia and Cesarean delivery (C-section) as well as neonatal outcomes including preterm birth among 207 births in women with early-onset colorectal cancer (ages 18-49) and 1019 births in women without colorectal cancer in Sweden (1992-2019). Early-onset colorectal cancer cases were identified through the Cancer Register, and outcome data were retrieved through linkage to Medical Birth Register and National Patient Register. Using conditional logistic regression, we estimated multivariable-adjusted odds ratios (ORs) and 95% confidence intervals (CIs).
UNASSIGNED: Between Jan 1, 1992, and Dec 31, 2019, women with early-onset colorectal cancer who gave birth had increased odds of pre-eclampsia (7.2% vs 3.2%; OR = 2.52, 95%CI = 1.25-5.08), any C-section (24.6% vs 19.4%; OR = 1.43, 95%CI = 1.00-2.06), particularly emergency C-section (17.4% vs 10.5%; OR = 1.79, 95%CI = 1.17-2.75), after adjustment for maternal education level, country of birth, body mass index and smoking in early pregnancy, and comorbidities. Maternal history of early-onset colorectal cancer was also associated with offspring preterm birth (12.1% vs 5.2%; OR = 2.31, 95%CI = 1.34-3.99), delineated as spontaneous (OR = 1.06, 95%CI = 0.47-2.39) or medically-indicated preterm birth (OR = 4.48, 95%CI = 2.05-9.79). There was no increased risk of congenital malformation or small for gestational age birth.
UNASSIGNED: In this population-based study, maternal history of early-onset colorectal cancer was associated with risk of both adverse pregnancy (pre-eclampsia, C-section) and neonatal outcomes (preterm birth).
UNASSIGNED: US National Institutes of Health, Swedish Society of Medicine, Swedish Cancer Foundation.

The incidence of early-onset vitamin K deficiency bleeding (VKDB) in at-risk neonates who did not receive vitamin K supplementation varied from 6 to 12%. This case report aims to show that VKDB can occur abruptly after birth despite vitamin K1 1 mg IM being given immediately after birth.
A term female baby was born through vaginal delivery of a 28 years old mother, G1P0A0, 39-40 weeks gestation with normal APGAR score, and birth weight was 3445 g, birth length was 52 cm. During pregnancy, the mother did not take any drugs except vitamins. There are no abnormalities on the baby\'s physical examination. The anus is patent. Immediately after birth, the baby received a vitamin K1 1 mg intramuscularly. Abruptly, 50 min after delivery, there was meconium with lots of fresh blood. Laboratory results showed hemoglobin, 19.6 g/dL; leukocytes, 25,010/uL; platelets, 390,000/uL, with increased PT and aPTT. A peripheral blood smear showed a normal blood morphology. When 7 h old, the baby had much hematochezia. Laboratory results showed decreased hemoglobin to 17.5 g/dL and increased PT, aPTT, and INR. No abnormalities were found on the babygram and abdominal ultrasound. The working diagnosis was gastrointestinal bleeding due to idiopathic early-onset VKDB. The baby received vitamin K1 2 mg IM, Fresh Frozen Plasma, and a Packed Red Cells transfusion. The patient returned home in good clinical condition.
Vitamin K1 1 mg IM prophylaxis should be given immediately after birth to prevent early-onset VKDB. In addition, pregnant women who receive drugs that interfere with vitamin K metabolism (anti-epileptic drugs, anti-tuberculosis drugs, vitamin K antagonist drugs) should be given prophylactic vitamin K1, 20 mg/d orally, for at least two weeks before the expected time of delivery.

OBJECTIVE: Although basal cell carcinoma (BCC) is prevalent in the older population, it can be rarely seen in younger people. This study aims to investigate the risk factors and characteristics of BCC in young patients.
METHODS: Pathology reports in a single tertiary care institution between 2010 and 2020 were retrospectively reviewed. Patients under the age of 35 who were diagnosed with BCC were included for the analysis. Data were gathered from medical records and pathology reports. Demographic characteristics, accompanying pathologies, and clinical findings of these patients were analyzed.
RESULTS: There were a total of 32 patients in our cohort. Out of 32 patients, 20 were female and 12 were male. One male patient and five female patients were younger than 18. An accompanying risk factor (Gorlin syndrome, XP, renal transplantation, etc.) was present in six patients. There were no known additional diseases or risk factors in 26 patients. Metastasis and recurrence were not reported in any of our patients. Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study.
CONCLUSIONS: Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study. Understanding the risk factors associated with BCC is essential for designing prevention strategies and favoring early diagnosis. Awareness of early-onset BCC aids in early diagnosis and treatment of the disease. Therefore, BCC should be in the differential diagnosis of skin lesions in the young population. In addition, when we encounter early-onset BCC, we should not forget the accompanying risk factors and syndromes.

Peristomal pyoderma gangrenosum (PPG) is a rare dermatological condition associated with gastroenterological disease. Most gastrointestinal surgeons find it difficult to suspect and treat PPG, especially at early onset. The patient was an 18-year-old female. The patient underwent three-stage restorative proctocolectomy for refractory ulcerative colitis. On postoperative day (POD) 9, the trocar wound near the ileostomy site dehisced. Because the wound culture was positive, the wound was treated with an antibacterial agent as an infection. However, the wound worsened. The patient was referred to a dermatologist for diagnosis. PPG was diagnosed on POD 37. Wound management was initiated using topical steroids. The wound caused difficulties in pain and dressing management. Although infliximab was administered as a systemic therapy, it was discontinued because of allergic symptoms. Sealing therapy with hydrofiber dressing and adequate stoma pouching with stoma paste provided good exudate absorption and a clean environment by protecting the wound from stoma excretion. Oral prednisone was initiated on POD 82. Improvement in the wound condition was observed with a prednisone dose of 30 mg/day. Complete remission was achieved seven months after onset. Twelve months after the surgery, stoma closure was performed. The local cutaneous condition remained in remission without exacerbation. Suspicion of PPG can be difficult when it develops early after stoma creation. We never forget that PPG should be suspected when a progressive ulcerative lesion is found around the stoma, even early after operation. If PPG is suspected, a multidisciplinary team plays an essential role in its diagnosis and management.

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is one of the most common types of cardiac amyloidosis. Amyloid cardiomyopathy more commonly affects men, elderly, and 3% to 4% of the African-American population. ATTR-CM suspicion and diagnosis is challenging; however, awareness of the disease is increasing, and best practices to identify it are being proposed. The approach to suspected cases of ATTR-CM relies on the presence of heart failure, red flag signs and symptoms, and age >65 or >70 for men and women respectively. Little is known about cases when it presents in early ages. Case: We report a 62-year-old African American male with past medical history of hyperlipidemia, prostate cancer, hypertension, bilateral carpal tunnel surgery that had debuted with a cardiac arrhythmia at age 55 and was diagnosed with heart failure several years later. Restrictive cardiomyopathy was suspected, and genetic screening was sent for ATTRm which confirmed a pathogenic trasnthyretin gene mutation. Endomyocardial biopsy was performed which confirmed cardiac amyloid deposition. Discussion: ATTR-CM is a rare disease with an increasing prevalence. Cases with out of proportion signs and symptoms of heart failure with preserved ejection fractions should raise the suspicion of ATTR-CM despite age.

Few studies have investigated relationships between birth season and early-onset bipolar affective disorder (BAD) in young adults. In the current study, birth season was compared in patients with early-onset BAD and in sex-matched and age-matched controls. A total of 957 patients aged <25 years of age from three hospitals in the North China Plain region were enrolled in the study. Sex-matched and age-matched control group data were collected in universities and schools via questionnaires. The R*C chi-square test was used to assess distributional differences in season of birth both in the patient and control group. A binary logistic regression model adjusted for age and sex was used to evaluate associations between season of birth and BAD. Using spring as the reference season, BAD patients showed significantly lower odds ratios of being born in any other season. There were associations between birth season and early-onset BAD, and early-onset BAD patients were more likely to have been born in spring. These data have implications for future disease prevention strategies and future research.