Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course

Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months‐of‐age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. For >6 years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. The mutation was transmitted in an autosomal‐dominant fashion across three generations of his family, but the severity of diabetes varied among members from neonatal diabetes to mild diabetes. One family member had normal glucose tolerance despite having the mutation. This case presentation could help in the understanding of neonatal diabetes caused by the ABCC8 gene mutation.     

Cat scratch disease showing clinical picture resembling tuberculous lymphadenitis: a case report

On February 18th, 1997, a 61-year-old woman visited our hospital because of a left inguinal mass. On physical examination, the mass was soft without inflammatory sign. About one month later, the node was excised. Pathological examination revealed granulomas with caseous necrosis and Langhans giant cells, suggesting tuberculosis, although acid fast stain was negative. Thereafter, re-history taking in detail disclosed that a kitten had often scratched her. We reexamined the pathology and checked her for serum antibodies to Bartonella henselae, the etiological microbe of cat scratch disease (CSD), using enzyme immunoassay. Histopathological reexamination of the excised mass revealed suppurative granulomas in addition to caseous ones. The level of IgG (negative: < 12 units) to B. henselae was 78 units on March 25th, 138 units on April 19th, and 18 units on July 18th, while the level of IgM (negative: < 12 units) was negative at each determination. These serological results strongly suggested current infection of B. henselae. The diagnosis of CSD could be established based on the history and the laboratory findings. When one encounters a case of granulomatous lymphadenitis, CSD should be considered for the differential diagnosis, and in this regard, anamnesis about contact with cats should be asked.     

Evaluation of endorectal ultrasound for the assessment of wall invasion of rectal cancer

To accurately assess the depth of cancer invasion, endorectal ultrasound was performed using a radial scanner (Aloka, 7.5 MHz) in 145 patients with rectal cancer. High-resolution ultrasound clearly depicted five- or seven-layer echographic structures in the normal rectal wall, and demonstrated cancer as a hypoechoic lesion. These layer structures provided an important feature in determining the depth of cancer invasion. Rectal cancers of 122 patients were examined thoroughly by endorectal ultrasound. In 95 of these patients (77.9 percent), ultrasonic assessment of the depth of cancer invasion as classified in four groups was correct, corresponding accurately to the microscopic findings. Ultrasonography overestimated the depth of cancer invasion in 21 patients, however, and underestimated it in six patients. This study indicated that a cause of the overestimation was inflammatory cell infiltration around cancer, and that one possible cause of underestimation was microscopically minimal invasion of cancer. Although there are certain limitations of endorectal ultrasound, this ultrasound technique will provide valuable information to determine the preoperative staging of rectal cancer.     

Staphylococcus aureus bacteremia in patients with hematologic disorders.

During the 20-year period, 1972-1991, 27 episodes of Staphylococcus aureus bacteremia, including 10 with methicillin-resistant strains (MRSA), were documented in 26 patients with hematologic disorders, mainly acute leukemia and malignant lymphoma, representing 6% of all 433 episodes of bacteremia in a hematology unit. MRSA replaced methicillin-sensitive strains (MSSA) in the last four years. The skin and upper respiratory tract were the two most common primary foci. Most episodes occurred during neutropenia. Pharyngeal colonization often preceded the development of bacteremia. Antibiotic therapy predisposed to MRSA acquisition during hospitalization, whereas MSSA was mostly detected in admission cultures. Among 22 patients with monomicrobial bacteremia, 19 (86%) survived longer than one week, including all four with MRSA bacteremia who received vancomycin. The survival rate did not differ materially between MRSA and MSSA bacteremias. Secondary foci, chiefly located in the lung, were found in 30% of all patients with S. aureus bacteremia. Prolonged antibiotic therapy, therefore, seems warranted in patients with evident metastatic lesions, although abbreviated therapy is proposed in neutropenic cancer patients.     

Clinical features,therapeutic outcomes,and recovery period of long COVID

To characterize the clinical features of long COVID, 286 patients who received care in our outpatient clinic for long COVID from May to December 2021 were surveyed. The recovery periods of each symptom and the key factors contributing to early recovery were statistically analysed. The median age of the patients was 35.8 years, with 137 men and 149 women. The median number of symptoms was 2.8. The most frequent symptoms were respiratory manifestations (52.1%), followed by fatigue (51.4%). Respiratory symptoms, fatigue, and headache/arthralgia were major complaints in the initial phase, whereas hair loss was a major complaint in the late phase, suggesting that the chief complaint of patients with long COVID may vary temporally. The best treatment outcome was observed for pulmonary symptoms, and hair loss had the worst outcome. COVID-19 severity, the number of manifestations, and the delay in starting treatment exerted a negative effect on the recovery period of long COVID. In addition, the smoking habit was an independent risk factor for slowing the recovery period from long COVID. This study provides insights into the clinical course of each manifestation and therapeutic options with a more certain future of long COVID to meet the unmet medical needs.