Use of Ilizarov technique for bilateral knees flexion contracture in Juvenile-onset ankylosing spondylitis: A case report

BACKGROUND Ankylosing spondylitis(AS)is a chronic rheumatic disease that primarily affects the spine and the sacroiliac and peripheral joints.Juvenile-onset AS(JoAS)patients will likely present with peripheral joint symptoms.Knee flexion contracture(KFC)and hip flexion contracture(HFC)are common in these patients due to subchondral bone inflammation.The Ilizarov technique is the most commonly used technique for treating KFC.However,its use to treat JoAS-associated KFC has not been reported.CASE SUMMARY This report presents a case study of a 31-year-old male patient with a squatting gait due to severe bilateral KFC and HFC.The patient had a normal walking pattern until the age of eight,after which he experienced knee and hip pain,leading to the gradual development of KFC and HFC.The patient’s primary complaint was an inability to walk upright.The patient was diagnosed with JoAS and under-went hip dissection and release,limited soft tissue release of the hamstring,and gradual traction using the Ilizarov method.Ultimately,the patient was able to walk upright.CONCLUSION The incidence of squatting gait due to KFC in individuals diagnosed with JoAS was low.Utilizing the Ilizarov technique has proven to be a secure and effective method for managing KFC in JoAS patients.Although the Ilizarov technique cannot substitute for total knee arthroplasty(TKA),its application can delay the need for primary TKA in JoAS patients and alleviate the intricacy and potential complications associated with the procedure.

Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report

BACKGROUND Juvenile-onset primary open-angle glaucoma(JOAG),characterized by severe elevation of intraocular pressure and optic neuropathy prior to the age of 40,is a rare subtype of primary open-angle glaucoma.Several genetic mutations have been associated with JOAG.CASE SUMMARY The proband patient was a young male,diagnosed with primary open-angle glaucoma at the age of 27.The patient and his unaffected parents who have been excluded from classic genetic mutations for primary open-angle glaucoma were included to explore for other possible genetic variants through whole genome sequencing and bioinformatics analysis.In this trio,we found two heterozygous variants inherited from the parents in the proband:c.281G>A,p.Arg94His in OLFM2 and c.177C>G,p.Ile59Met in SIX6.Both genetic mutations are predicted through bioinformatics analysis to replace evolutionary conserved amino acids,therefore rendering a pathogenic effect on proteins.In contrast,very low frequencies for these genetic mutations were recorded in most common control databases.CONCLUSION This is the first report on coinherited mutations of OLFM2 and SIX6 in a JOAG family,which shows the complexity of JOAG inheritance.Large-scale clinical screening and molecular functional investigations on these coinherited mutations are imperative to improve our understanding of the development of JOAG.

Soluble MICB in Plasma and Urine Explains Population Expansions of NKG2D⁺CD4 T Cells Inpatients with Juvenile-Onset Systemic Lupus Erythematosus

Abnormal NKG2D ligand expression has been implicated in the initiation and maintenance of various auto-inflammatory disorders including systemic lupus erythematosus (SLE). This study’s goal was to identify the cellular contexts providing NKG2D ligands for stimulation of the immunosuppressive NKG2D+CD4 T cell subset that has been implicated in modulating juvenile-onset SLE disease activity. Although previous observations with NKG2D+CD4 T cells in healthy individuals pointed towards peripheral B cell and myeloid cell compartments as possible sites of enhanced NKG2DL presence, we found no evidence for a disease-associated increase of NKG2DL-positivity among juvenile-onset SLE B cells and monocytes. However, juvenile-onset SLE patient plasma and matched urine samples were positive by ELISA for the soluble form of the NKG2D ligands MICA and MICB, suggesting that kidney and/or peripheral blood may constitute the NKG2DL positive microenvironments driving NKG2D+CD4 T cell population expansions in this disease.

Impediments to clinical diagnosis and management of juvenile-onset recurrent respiratory papillomatosis in Ilorin, Nigeria

Background: To report the impediments to the diagnosis and management of children with JuvenileOnset Recurrent Respiratory Papillomatosis as seen in a teaching hospital in West Africa. Methods: Retrospectively analysed study of participants requiring surgical intervention for histologically confirmed juvenile onset recurrent respiratory papillomatosis managed at the Department of Otorhinolaryngology, University of Ilorin Teaching Hospital, Ilorin over a 10-year period (2002-2011) using prospectively collated database. Results: Juvenile-Onset Recurrent Respiratory Papillomatosis constituted 8.8% of 307 laryngeal pathologies seen during the study period. 18 (66.7%) were males and 9 (33.3%) females with a sex ratio (M:F) of 2:1. Age ranged from 1 year 4 months to 12 years with a mean age of 6.1 years (SD = 2.78), with the 6 - 10 age group constituting the largest categories in 51.9% of patients seen. Patients from low socioeconomic class constituted slightly over half of the patients studied (51.9%). 55.5% of the patients presented late (>13 months). All patients presented with hoarseness, stridor and difficulty in breathing. Misdiagnosis made by the referring clinician included Asthma, Laryngo-tracheo-bronchitis, Foreign body aspiration and Laryngomalacia. Involvement of the glottis occurred in 70.4% of cases seen, while bilateral involvement was present in 91.3% of cases operated. Recurrence was seen in 63.0% of the patients and the best attendance at follow-up clinic was during the first three months post surgical extirpation. Emergency tracheostomy was done to relieve airway obstruction in 17 (63.0%) patients. Conclusion: Impediments to diagnosis and management of JORRP are multifactorial. Misdiagnosis, late presentation and poor follow-up clinic attendance of patients with JORRP is still a common occurrence among the physicians. Recommendations on how to improve management and outcome of JORRP were made.