Neurological presentation does not always mean a neurological diagnosis.

This case article takes you on a journey starting with a paediatric patient presenting with sudden-onset lower limb paralysis and paraesthesia. Differential diagnoses, investigations and management are discussed as the case progresses, ultimately leading to the underlying cause.

Digital Physeal Arrest Following Dactylitis in a Child.

Introduction: Following trauma, premature growth arrest is a common outcome when the injury affects the pediatric growth plate. Dactylitis describes global inflammation affecting one or more digits in the hand or foot. It occurs in various seronegative arthropathies and septic arthritis.

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Legg-Calve-Perthes' disease (LCP) is defined as avascular necrosis of the femoral head in a child and may present to a variety of disciplines from general practice to orthopaedics, paediatrics, rheumatology and more. The Stickler syndromes are a group of disorders of type II, IX and XI collagen associated with hip dysplasia, retinal detachment, deafness and cleft palate. The pathogenesis of LCP disease remains an enigma but there have been a small number of cases reporting variants in the gene encoding the α1 chain of type II collagen (COL2A1).

Use of MRP8/14 in clinical practice as a predictor of outcome after methotrexate withdrawal in patients with juvenile idiopathic arthritis.

The objective of this study was to determine the effectiveness of MRP8/14 as a predictor of disease flare in patients with juvenile idiopathic arthritis (JIA) following the withdrawal of methotrexate (MTX) in a routine clinical setting. All MRP8/14 tests performed at a single centre in a 27-month period were considered for analysis. Patients were assessed against criteria for inactive disease and subsequent disease flare.

Stickler syndrome - lessons from a national cohort.

In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families.

From benchmarking to best practices: Lessons from the laboratory quality improvement programme at the military teaching hospital in Cotonou, Benin.

Background: In 2015, the Army Teaching Hospital-University Teaching Hospital (HIA-CHU []) laboratory in Benin launched a quality improvement programme in alignment with the World Health Organization Regional Office for Africa's Stepwise Laboratory Improvement Process Towards Accreditation (SLIPTA). Among the sub-Saharan African laboratories that have used SLIPTA, few have been francophone countries, and fewer have belonged to a military health system. The purpose of this article was to outline the strategy, implementation, outcomes and military-specific challenges of the HIA-CHU laboratory quality improvement programme from 2015 to 2018.

Metabolic Control and Determinants Among HIV-Infected Type 2 Diabetes Mellitus Patients Attending a Tertiary Clinic in Botswana.

Purpose: We primarily aimed at determining the prevalence of metabolic syndrome and abnormal individual metabolic control variables in HIV-infected participants as compared to HIV-uninfected participants given current concerns. Our secondary objective was to determine the predictors of metabolic syndrome and individual metabolic control variables among the study participants to guide future management.

Patients And Methods: A descriptive, case-matched cross-sectional study for four months from 15th June 2019 to 15th October 2019 at Block 6 Diabetes Reference Clinic in Gaborone, Botswana.

Therapeutic and diagnostic advances in Stickler syndrome.

Unlabelled: The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common.

The effectiveness of a multidisciplinary intervention strategy for the treatment of symptomatic joint hypermobility in childhood: a randomised, single Centre parallel group trial (The Bendy Study).

Introduction: Joint hypermobility is common in childhood and can be associated with musculoskeletal pain and dysfunction. Current management is delivered by a multidisciplinary team, but evidence of effectiveness is limited. This clinical trial aimed to determine whether a structured multidisciplinary, multisite intervention resulted in improved clinical outcomes compared with standard care.

Identifying heritable connective tissue disorders in childhood.

Heritable connective tissue diseases are rare. Each disorder estimated at 1-10 per 100,000. However, as a group they are prevalent enough to constitute an important diagnostic challenge.

Treatment compliance among prenatal care patients with substance abuse problems.

There is an insufficient number of substance abuse treatment programs available to pregnant women; however, even when women do enroll in treatment, they often choose not to comply with particular components of their treatment. To better understand what factors are associated with a woman's likelihood of compliance with treatment, this study assesses 244 pregnant, substance-using women enrolled in a specialized substance abuse treatment program. Women who complied with treatment referrals are compared with those who did not comply with referrals on various factors including their sociodemographic characteristics, types of substance use before and during pregnancy, experiences of violence before and during pregnancy, and prior substance use treatment.

Bias and limits of agreement between hydrodensitometry, bioelectrical impedance and skinfold calipers measures of percentage body fat.

Previous research has often used correlations as a statistical method to show agreement; however, this is not a valid use of the statistic. The purpose of this study was to investigate the bias and limits of agreement for three methods of estimating percentage body fat for 117 male and 114 female university athletes: hydrodensitometry (HYD), bioelectrical impedance (BIA) and skinfold calipers (SKF). The mean (SD) percentage body fat for males as assessed by HYD, BIA and SKF methods, respectively, were 13.

Gymnasts, distance runners, anorexics body composition and menstrual status.

Ten top class female distance runners, ten female anorexics and twenty female gymnasts of a similar age were compared for height, mass, %fat, fat mass, lean body mass, age of menarche and incidence of amenorrhoea. The mean age of the distance runners, anorexics, and gymnasts was 13.6 years, 14.

Renal failure due to BK virus infection in an immunodeficient child.

We report a child with cartilage-hair hypoplasia and Hodgkin's disease who developed progressive renal failure and died following infection with a polyomavirus, BK virus. Renal biopsy showed interstitial inflammation, tubular atrophy, and intranuclear inclusions in tubular epithelium, with large numbers of papovavirus particles within the cells. BK virus infection was confirmed by polymerase chain reaction on renal biopsy material and in urine and the demonstration of a high titre of haemagglutination inhibition (HI) and IgM antibody to the virus in the patient's serum.

Anthropometric and somatotype variables related to strength in American football players.

The purpose of this study was to investigate the differences in somatotype, % fat, and strength in relation to body mass of two groups of American football players. One hundred and forty-three football players (85 high school and 58 college) were classified into five weight groups (< 73 kg, 73-82 kg, 83-91 kg, 91-100 kg, > 100 kg). Body composition was estimated from skinfold, and somatotype was determined using the Heath-Carter method.

Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease.

We report the necropsy findings for three infants with the unusual combination of proximal renal tubular dysgenesis and severe congenital liver disease with excessive iron in several organs resembling neonatal hemochromatosis. Two of the infants were caucasian siblings and one was an Australian aborigine. One died in utero at 35 weeks of gestation and two died at 7 days.

Subdermal fibrous hamartoma of infancy: pathology of 40 cases and differential diagnosis.

Forty subdermal fibrous hamartomas of infancy occurred in 29 males and 11 females who were 7 months to 4 years of age at surgery. At least 4 were congenital. The lesions were situated in axilla, chest wall, and breast (17 cases); abdominal wall, inguinal region, and scrotum (8); buttock and lower limb (6); upper limb (4); neck and scalp (3); and low back (2).

Pathology of osseous and genitourinary lesions of Proteus syndrome.

A male patient followed from the age of 3 to 25 years was eventually diagnosed as having Proteus syndrome. He was born with linear epidermal nevi of the neck and forearm and presented with macrodactyly of the right hand and progressive hemihypertrophy of the right lower limb recurring after multiple reduction operations. The bone ends showed disorderly overgrowth of hyaline and fibrocartilage mixed with collagen and bone, and early differential diagnoses included Ollier's disease.