Inflammatory bowel disease in Cape Town, 1975-1980 Part I. Ulcerative colitis

Previously documented and new patients with ulcerative colitis seen between 1975 and 1980 in the Gastro-intestinal Clinic of Groote Schuur Hospital were studied to establish the local incidence and clinical features of tHis disease. There were 220 patients and the mean follow-up was 7,7 ± 0,4 years. Sixty percent of patients were White, 37% Coloured and 3% Black. The incidence for the Coloured and White population was calculated' to be 1,3 and 2,4/100000 per year during 1970-1974 and 1,6 and 2,1/100000per year during 1975-1980. respectively. In Jews the rates were 8.5 and 10.4/100 000 per year for the two periods. Insufficient data are available to calculate an incidence for the Black population. The disease was limited to less than 15 cm above the anus in 14% of patients, to the rectoSigmoid colon in 45%. and to the rest of the colon in 40%. Although the severity of symptoms was related to the extent of disease, 22% of patients with extensive colitis had mild symptoms, while 15% with disease limited to the rectum had severe symptoms. The clinical features were similar in the White and Coloured population groups. A total colectomy was performed on 20% of patients with extensive colitis; in 2%the diseasewas complicated by colonic-carcinom

First Results from the HerschelHerschel and ALMA Spectroscopic Surveys of the SMC: The Relationship Between [CII]-bright Gas and CO-bright Gas at Low Metallicity

The Small Magellanic Cloud (SMC) provides the only laboratory to study the structure of molecular gas at high resolution and low metallicity. We present results from the Herschel Spectroscopic Survey of the SMC (HS$^{3}$), which mapped the key far-IR cooling lines [CII], [OI], [NII], and [OIII] in five star-forming regions, and new ALMA 7m-array maps of $^{12}$CO and $^{13}$CO $(2-1)$ with coverage overlapping four of the five HS$^{3}$ regions. We detect [CII] and [OI] throughout all of the regions mapped. The data allow us to compare the structure of the molecular clouds and surrounding photodissociation regions using $^{13}$CO, CO, [CII], and [OI] emission at $<10$" ($<3$ pc) scales. We estimate Av using far-IR thermal continuum emission from dust and find the CO/[CII] ratios reach the Milky Way value at high A$_{V}$ in the centers of the clouds and fall to $\sim{1/5-1/10}\times$ the Milky Way value in the outskirts, indicating the presence of translucent molecular gas not traced by bright CO emission. We estimate the amount of molecular gas traced by bright [CII] emission at low A$_{V}$ and bright CO emission at high A$_{V}$. We find that most of the molecular gas is at low A$_{V}$ and traced by bright [CII] emission, but that faint CO emission appears to extend to where we estimate the H$_{2}$-to-HI transition occurs. By converting our H$_{2}$ gas estimates to a CO-to-H$_{2}$ conversion factor ($X_{CO}$), we show that $X_{CO}$ is primarily a function of A$_{V}$, consistent with simulations and models of low metallicity molecular clouds.Comment: Accepted for publication in Ap

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Inflammatory bowel disease in Cape Town, 1975-1980 Part n. Crohn's disease

Patients with Crohn's disease seen in the Gastrointestinal Clinic of Groote Schuur Hospital between 1975 and 1980 were studied to establish the incidence and clinical features of this disease. There were 117 patients and the mean (± SEM) follow-up was 6,1 ± 0,5 years. Of these patients 72% were White, 37% Coloured and 1% Black. The incidence for the Coloured and White population groups was calculated to be 0,4 and 0,9/100000 per year during 1970-1974 and 1,3 and 1,2/100000 per year during 1975-1980 respectively. In Jews the rates were 5,0 and 7,2/100000 per year forthe two periods. Insufficient data are available to calculate an incidence for the Black population. The disease involved the ileum in 39%, the colon in 17%and both areas in 44% of patients. At presentation 18% of patients had mild, 37% moderate, and 45% severe disease. The severity of symptoms was not related to the extent of the disease. A peri-anal fistula was present in 24% of patients. There was no difference in clinical features between the different population groups. Surgical resection had been performed in 50% of patients and 29% of these had had two or more resections. The surgical rate in the ileitis group was 63%, in the ileocolitis group 49% and in those with colitis 20%

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1

Background: Mucopolysaccharidosis type I (MPS‐I) is a lysosomal storage disorder caused by a deficiency of the enzyme α‐l‐iduronidase, leading to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multiorgan dysfunction. In humans, depending upon the nature of the underlying mutation(s) in the IDUA gene, the condition presents with a spectrum of clinical severity. Objectives: To characterize the clinical and biochemical phenotypes, and the genotype of a family of Golden Retriever dogs. Animals: Two affected siblings and 11 related dogs. Methods: Family study. Urine metabolic screening and leucocyte lysosomal enzyme activity assays were performed for biochemical characterization. Whole genome sequencing was used to identify the causal mutation. Results: The clinical signs shown by the proband resemble the human attenuated form of the disease, with a dysmorphic appearance, musculoskeletal, ocular and cardiac defects, and survival to adulthood. Urinary metabolic studies identified high levels of dermatan sulfate, heparan sulfate, and heparin. Lysosomal enzyme activities demonstrated deficiency in α‐l‐iduronidase activity in leucocytes. Genome sequencing revealed a novel homozygous deletion of 287 bp resulting in full deletion of exon 10 of the IDUA gene (NC_006585.3(NM_001313883.1):c.1400‐76_1521+89del). Treatment with pentosan polyphosphate improved the clinical signs until euthanasia at 4.5 years. Conclusion and Clinical Importance: Analysis of the genotype/phenotype correlation in this dog family suggests that dogs with MPS‐I could have a less severe phenotype than humans, even in the presence of severe mutations. Treatment with pentosan polyphosphate should be considered in dogs with MPS‐I

Cervical myelopathy in athetoid and dystonic cerebral palsy: retrospective study and literature review

The early onset of degenerative cervical lesions has been well described in patients suffering from athetoid or dystonic cerebral palsy. Myelopathy can occur and aggravate of their unstable neurological status. Diagnosis and treatment are delayed and disrupted by the abnormal movements. This retrospective study was implemented to evaluate the symptoms, the anatomical findings, and the surgical management of seven patients from 20 to 56 years old suffering from cervical myelopathy and athetoid or dystonic cerebral palsy. The mean delay in diagnosis was 15 months and the mean follow-up was 33 months. The initial symptoms were spasticity, limbs weakness, paresthesias and vesico-sphinteric dysfunction. In addition to abnormal movements, imaging demonstrated disc herniation, spinal stenosis and instability. All patients were managed surgically by performing simultaneous spinal cord decompression and fusion. Two patients benefited from preoperative botulinum toxin injections, which facilitated postoperative care and immobilization. Strict postoperative immobilization was achieved for 3 months by a Philadelphia collar or a cervico-thoracic orthosis. All patients improved functionally with a mean Japanese Orthopaedic Association score gain of 1.5 points, in spite of the permanent disabilities of the myelopathy. Complications occurred with wound infection, metal failure and relapse of cervical myelopathy at an adjacent level in one case each. All the previous authors advised against isolated laminectomy but no consensus emerged from the literature analysis. Spinal fusion is usually recommended but can be complicated by degenerative adjacent deterioration. Surgical management provides good outcomes but requires a long-term follow-up

"Eu não preciso falar que eu sou branca, cara, eu sou Latina!" Ou a complexidade da identificação racial na ideologia de ativistas jovens (não)brancas "I do not have to say that I am white, man, I am Latina!" Or the complexity of racial identification in the ideology of (non)white, young, female activists

Neste artigo procuro explorar a complexidade do processo de formação da identidade racial de mulheres, jovens ativistas (não)brancas em São Paulo. Levando em conta a interação do indivíduo com o mundo social, distingue-se a identidade racial apropriada da atribuída e a identidade racial individual da coletiva. Isso requer atenção para o papel da posição social racial, com as subsequentes vantagens raciais, para os sentimentos da ativista neste processo e para a influência mútua da heterogeneidade de identidade racial, do deslocamento da identidade racial e, por conseguinte, do papel da formação de identidade como estratégia de ideologia e práxis ativista.<br>In this article, I explore the complexity of racial identity formation of (non)white, young, female activists in São Paulo. Taking into account the interaction of the individual with the social world, one must distinguish between appropriated and attributed racial identities, as well as individual and collective identities. This requires attention to the role of racial social position and its subsequent racial advantages, to the feelings of activists about this process, and to the mutual influence of the heterogeneity of racial identity, the displacement of racial identity and, consequently, the role of identity formation as a strategy of activist ideology and praxis