This case report focuses on a couple facing primary infertility, where the male partner exhibited asthenoteratozoospermia and high DNA fragmentation. The treatment approach involved three cycles of intracytoplasmic sperm injection (ICSI), an assisted reproductive technology (ART), to indicate and address the specific challenges posed by male factor infertility. The initial two attempts failed as DNA fragmentation was high, which was observed on days 4 and 3 of abstinence, respectively. In the third cycle, DNA fragmentation was low on day 2 of the abstinence period, resulting in the successful formation and cryopreservation of embryos. Subsequently, three months later, frozen embryo transfer (ET) was done. This was followed by a positive β-human chorionic gonadotropin (hCG) test after 14 days that confirmed biochemical pregnancy, and successful conception was determined by ultrasound detection of the visible sac with fetal pole. This report underscores the critical importance of treatment plans for individual patients, especially considering the impact of abstinence periods on sperm DNA fragmentation. The findings promote a personalized approach to assisted reproductive techniques, enhancing the success rate. It is recommended that further comprehensive studies be conducted to validate and anticipate these observations.

Subacute combined degeneration (SCD) is a neurological disorder caused by vitamin B12 deficiency, prevalent in the cervical and thoracic medullas, with an insidious onset and a lack of characteristic clinical manifestations. The present study describes a case of a 36-year-old female patient with SCD who demonstrated abnormal changes in the white matter of the brain. The laboratory test results showed a decrease in serum vitamin B12 levels and an increase in homocysteine levels. Magnetic resonance imaging (MRI) of the brain showed that, in addition to abnormal signals in the cervical and thoracic spine, speckled and short-striped abnormal signals were present, symmetrically distributed in the centrum semiovale. After 6 months of follow-up treatment, cranial MRI showed a significant attenuation of the symmetrical speckled and short-striped abnormal signals in the centrum semiovale. Homocysteine and serum vitamin B12 levels of the patient were within the expected range. Although, to the best of our knowledge, there have been no previous reports of alterations in the brain of patients with SCD, if these patients report neurological symptoms, clinicians should consider that these symptoms may be accompanied by inflammatory demyelination of the brain.

UNASSIGNED: Desmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated DES gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms requires further investigation.
UNASSIGNED: We described a Chinese family present with cardiomyopathy and sudden cardiac death (SCD). Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic entity of this family.
UNASSIGNED: An unknown heterozygote missense variant (c.1300G > A; p. E434K) of DES gene was identified. The mutation cosegregates in this family. The mutation was predicted as pathogenic and was absent in our 200 healthy controls.
UNASSIGNED: We identified a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy but also broadened the spectrum of DES mutations.

BACKGROUND: Sickle cell disease is a common inherited hemoglobinopathy and is associated with high morbidity and mortality. Vaso-occlusive crises commonly occur in individuals with SCD that results in high morbidity due to end-organ ischemia and infarction. These include splenic infarction, pulmonary involvement, acute chest syndrome, and orbital compression syndrome. Ocular manifestations of SCD include anterior segment ischemia, secondary glaucoma, angoid streaks, retinopathy, and retinal artery occlusion. Commonly reported causes for the incidence of sickle cell disease are extreme temperatures, wind speed, and rainfall. This study has conducted an investigation of recurrent orbital bone sub-periosteal hematoma in a sickle cell patient that was exposed to high altitude areas.
METHODS: A 12-year-old boy with SCD developed a recurrent sudden periorbital pain and swelling during a visit to high altitude area. The family reported two similar attacks previously. The patient recovered completely with timely initiated conservative treatment. The case study is about homozygous SCD with previous history of similar attack of painful periorbital swelling that resolved after conservative management. This condition was associated with proptosis, diplopia, and restriction of eye movement. Magnetic resonance imaging of the orbits showed right orbital roof subperiosteal mass adjacent to the orbital wall, which was identified as a subperiosteal haematoma, inducing proptosis. The patient was discharged after 7 days with follow up.
CONCLUSIONS: Infarction of orbital bones during vaso-occlusive crises in SCD presented acutely with a rapidly progressive painful periorbital swelling. Hematomas frequently complicate the condition, along with the inflammatory swelling that may lead to the orbital compression syndrome. The condition is sight-threatening and necessitates prompt diagnosis along with appropriate management. This condition mandates prompt initiation of conservative treatment and close monitoring of the optic nerve functions to prevent permanent visual loss in young patients.

Avoidant/restrictive food intake disorder (ARFID) is a potentially lethal eating disorder. This case example of a male, G, aged 17 years with ARFID illustrates the multiplicity of health problems related to nutritional deficiencies which may develop in an adolescent of normal weight. Of particular concern was the diagnosis of subacute combined degeneration (SCD) of the spinal cord and the real possibility that G may have irreversible damage to his spinal cord. To our knowledge, this is the first reported case of a patient with SCD of the spinal cord due to ARFID. The adolescent was found to be deficient in Vitamin A, E, K, D, B12, and folate. Management required vitamin replacement, initial nasogastric feeding and the slow introduction of a varied diet. This patient will require long term rehabilitation. Medical practitioners need to be attuned to abnormal eating patterns in children and adolescents and refer for specialist care early.