Primary biliary cholangitis with features of autoimmune hepatitis in a 19-year-old adolescent with 14q24.1q24.2 deletion: a case report.

Introduction: Primary biliary cholangitis (PBC) is a rare and chronic autoimmune liver disease characterized by the progressive destruction of small intrahepatic bile ducts that may eventually lead to cirrhosis. PBC with features of autoimmune hepatitis (AIH) has rarely been reported in pediatric patients with genetic defects. We present the case of an adolescent with chromosome 14q24.1q24.2 deletion who was given the diagnosis of stage IV PBC with features of AIH. Case presentation: A 19-year-old male adolescent with multiple congenital abnormalities and an intellectual disability presented with abnormal liver enzymes levels and pruritus for more than 5 years. Laboratory examinations revealed elevated levels of aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, and gamma-glutamyl transpeptidase. After the exclusion of viral hepatitis, alpha-1 antitrypsin deficiency, Wilson's disease, and other genetic cholestatic liver diseases by laboratory tests and whole exome sequencing, a liver biopsy was performed and stage IV PBC was diagnosed. Notably, features of AIH were also noted in the histopathological report, indicating the presence of PBC with AIH features. The patient responded well to a combination therapy of ursodeoxycholic acid and steroids. Array comparative genomic hybridization analysis performed to study the congenital abnormalities revealed a 3.89 Mb 14q24.1q24.2 deletion. Conclusion: PBC with AIH features has rarely been reported in an adolescent with a chromosomal abnormality. The present case can increase awareness for early-onset PBC and its possible correlation with chromosomal defects.

Quantitative Analysis for the Delineation of the Subthalamic Nuclei on Three-Dimensional Stereotactic MRI Before Deep Brain Stimulation Surgery for Medication-Refractory Parkinson's Disease.

Delineation of the subthalamic nuclei (STN) on MRI is critical for deep brain stimulation (DBS) surgery in patients with Parkinson's disease (PD). We propose this retrospective cohort study for quantitative analysis of MR signal-to-noise ratio (SNR), contrast, and signal difference-to-noise ratio (SDNR) of the STN on pre-operative three-dimensional (3D) stereotactic MRI in patients with medication-refractory PD. Forty-five consecutive patients with medication-refractory PD who underwent STN-DBS surgery in our hospital from January 2018 to June 2021 were included in this study. All patients had whole-brain 3D MRI, including T2-weighted imaging (T2WI), T2-weighted fluid-attenuated inversion recovery (FLAIR), and susceptibility-weighted imaging (SWI), at 3.0 T scanner for stereotactic navigation. The signal intensities of the STN, corona radiata, and background noise were obtained after placing regions of interest (ROIs) on corresponding structures. Quantitative comparisons of SNR, contrast, and SDNR of the STN between MR pulse sequences, including the T2WI, FLAIR, and SWI. Subgroup analysis regarding patients' sex, age, and duration of treatment. We used one-way repeated measures analysis of variance for quantitative comparisons of SNR, contrast, and SDNR of the STN between different MR pulse sequences, and we also used the dependent t-test for the post hoc tests. In addition, we used Mann-Whitney U test for subgroup analyses. Both the contrast (0.33 ± 0.07) and SDNR (98.65 ± 51.37) were highest on FLAIR (all p < 0.001). The SNR was highest on SWI (276.16 ± 115.5), and both the SNR (94.23 ± 31.63) and SDNR (32.14 ± 17.23) were lowest on T2WI. Subgroup analyses demonstrated significantly lower SDNR on SWI for patients receiving medication treatment for ≥13 years (p = 0.003). In conclusion, on 3D stereotactic MRI of medication-refractory PD patients, the contrast and SDNR for the STN are highest on FLAIR, suggesting the optimal delineation of STN on FLAIR.

Transseptal Suturing With Turbinate Coblation in Nasal Septoturbinoplasty.

OBJECTIVE: Transseptal suture-assisted septoplasty and coblation are two techniques that can effectively treat septal deviation and inferior turbinate hypertrophy without the need for post-operative packing. In the existing literature, however, the early post-operative symptoms and surgical outcomes of the combination of these 2 procedures have not been addressed. METHOD: This retrospective study included 65 patients who underwent concomitant nasal septoturbinoplasty. The patients were divided into two groups: the transseptal suture-assisted septoplasty and inferior turbinate coblation group (no-packing group: 33 patients) and the conventional septoturbinoplasty group with merocel packing (packing group: 32 patients). The post-operative symptoms within 14 days, complications and surgical outcomes at 3 months after surgery were recorded and analyzed. RESULTS: The patients in the no-packing group experienced less nasal obstruction on the first, second and third days post-operatively than those in the packing group (P < 0.000, P < 0.000, and P = 0.043, respectively). The patients in the no-packing group also had less nasal bleeding (P = 0.000 and P = 0.001), dry mouth sensation (P = 0.016 and P = 0.034) and swallowing disturbance (P = 0.013 and P = 0.012) on the first and second days post-operatively, respectively. In terms of orbital symptoms, the patients in the packing group had more severe epiphora (P = 0.031) and swelling sensations (P = 0.040) on the first day post-operatively. CONCLUSIONS: Transseptal suturing and coblation-assisted septoturbinoplasty can be considered to prevent packing-related comorbidities and reduce post-operative discomfort.

Human coronavirus OC43 infection associated pneumonia in a girl with acute lymphoblastic leukemia: A case report.

RATIONALE: Information regarding the clinical features and outcomes of pneumonia due to an infection with human coronavirus (HCoV)-OC43 in children with cancer is rare. This report presents the clinical features in terms of chest CT scan images which may be used to identify cases of HCoV-OC43 infection induced pneumonia in immunocompromised children. PATIENT CONCERNS: We report here a girl with acute lymphoblastic leukemia who developed respiratory symptoms during febrile neutropenia. Rapid clinical progression and nodular lesions on her chest X-ray and computed tomography scans were suggestive of a pulmonary fungal infection. DIAGNOSIS: A series of tests eventually confirmed the exclusive presence of HCoV-OC43 by the FilmArray Respiratory Panel from a throat swab sample. INTERVENTIONS: After the diagnosis was confirmed, the antimicrobial agents initially administered were discontinued. OUTCOMES: Although the chest CT scan images looked severe, the clinical course of the infection induced pneumonia was benign. The respiratory status of the patient was completely resolved in 2 weeks. LESSONS: This report highlights the importance of early identification of respiratory viruses, via the realization of their clinical characteristics, which helps reduce the duration of administration of antimicrobial agents in this setting.

Diagnostic Value of C-reactive Protein and Interleukin-8 in Risk Stratification of Febrile Neutropenic Children with Allogeneic Hematopoietic Stem Cell Transplantation.

In this analysis, the levels of CRP and IL-8 were employed as a guide for designing the duration of antibiotics administration in the condition of febrile neutropenia. The importance of laboratory biomarkers is in the early diagnosis of critical illness and adjustment of further management. IL-8 is a useful biomarker for the early identification of critically ill patients, compared to CRP in FN.

Huge epiglottic cyst: a rare cause of airway obstruction in an adolescent.

A 15-year-old boy presented with airway obstruction and a history of sore throat and progressive dyspnoea for 1 month. A lateral neck radiograph showed an enlarged epiglottis, and a neck computed tomography (CT) demonstrated a cyst attached to the lingual surface of the epiglottis. A large epiglottic cyst, 4 cm in length, was removed surgically. Epiglottic cysts have been reported to cause airway obstruction in neonates, infants and adults, but, to the best of our knowledge, it has rarely been reported in adolescents.

Disseminated cat-scratch disease: case report and review of the literature.

Cat scratch disease (CSD) can present as a systemic disease in 5-10% of cases and lead to various disease entities. A previously healthy 16-month-old boy presented with fever for 7 days without other obvious symptoms. Abdominal computed tomography scan demonstrated enlarged right inguinal lymph nodes and multiple small round hypodensities in the spleen. Despite antibiotic treatment for 1 week, the fever persisted and the intrasplenic lesions progressed. Inguinal lymph node biopsy confirmed CSD by immunohistochemistry staining. The diagnosis of CSD was also supported by a history of contact, imaging and serological findings. The patient recovered after treatment with azithromycin for a total of 5 weeks and, in serial follow-up, the hepatosplenic micro-abscesses resolved after 4th months.

Intraventricular silicone oil.

The authors report a case in which intravitreous silicone oil migrated into the ventricles. They note that intraventricular silicone oil can be misdiagnosed as intraventricular hemorrhage and neurosurgeons should be aware of this possibility. This 58-year-old woman with a history of Type II diabetic mellitus and retinal detachment (resulting from diabetic retinopathy), which had been treated with intravitreous silicone tamponade, presented with dizziness and headache approximately 10 years after the intravitreous silicone treatment. Over the next 6 years she underwent 2 non-contrast-enhanced brain CT studies and 1 MRI study for evaluation of her symptoms. On CT scan, extension of the intraocular silicone along the optic nerve was evident. Two hyperdense nodules were observed freely floating in the right lateral and fourth ventricles, remaining in the nondependent portion of ventricles in both supine and prone positions. On T2-weighted MRI, the left orbital content and the intraventricular nodules all demonstrated chemical shift artifacts typically associated with silicone. The imaging findings were characteristic for intraventricular silicone after silicone oil tamponade. The patient's dizziness and headache were treated symptomatically and she was followed up at the outpatient department. Migration of intravitreous silicone oil into the cerebral ventricles is a rare complication. Intraventricular silicone oil can mimic intraventricular hemorrhage. Radiographically, intraventricular silicone oil can be distinguished from hemorrhage as silicone oil tends to stay in the nondependent portion of the ventricle. Chemical shift artifacts on MRI may help establishing the diagnosis of intraventricular silicone oil. Currently, there is no consensus on surgical removal of intraventricular silicone oil, and in the majority of cases reported in the literature, the patients were asymptomatic.