Pycnodysostosis- A Rare Diagnosis Not to Miss

Key Words: Pycnodysostosis, fracture, autosomal recessive Background Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births 1. It is one of the lysosomal storage disorders with a deficiency of enzyme cathepsin K. Along with a history of repeated fractures of the bones, patients with Pycnodysostosis have a short stature, dolichocephalic skull, obtuse mandibular angle, short terminal phalanx. They also have dental abnormalities such as the delayed eruption of permanent teeth, and double rows of teeth. Mild psychomotor problems were noted in a few individuals 1, 2. Pycnodysostosis is diagnosed by clinical and radiological features as there is no diagnostic criterion. Skulls show open fontanels, generalized osteosclerosis, loss of the normal angle of the jaw, and hypoplasia of facial bones 3. Social and occupational support needed to prevent recurrent fractures. Orthopaedic and orthodontic cares are needed 4-7. The Case A non-diabetic normotensive male of 63 years presented to the medicine outpatients department (OPD) with complaints of burning type, non-radiating moderate intensity pain in the epigastric region for three months following taking of NSAIDs.  He gave a history of fractures of different bones following minimal trauma since his childhood and used to take NSAIDs every now and then. He did take orthopaedic consultation for those fractures but the underlying pathophysiology was not explored. Malunion of long bones resulted in a deformed limb. The rest of his past medical history and family history was unremarkable. On clinical examination, we found the patient had short stature with proportionately short limbs. He had dysmorphic features with a large head, small facial structures, frontal and bilateral parietal bossing. Examination of the oral cavity revealed a narrow high arched palate and hypoplastic, overcrowded teeth. His digits were short and stubby. The lower limbs of the patient have angular deformities that resulted from malunion of bones from previous fracture. Haematological and biochemical investigations were normal. Chest X-ray showed multiple ribs fracture on the right side. The patient's clavicle was normal in X-ray. Both tibia and fibula showed a malunited fracture in diaphysis. Computed tomography (CT) of the skull, as well as 3D reconstruction of CT, found open fontanelles and widening of sutures (Figure 1). Frontal and parietal bossing was noted. There was hypoplasia of the air sinuses. CT scans showed dysplasia of the bones of the face and hands. Hypoplasia was noted in the terminal phalanx of fingers. An endoscopy of the upper gastrointestinal tract found multiple erosion around the antrum of the stomach. Considering the clinical and radiological feature diagnosis of Pycnodysostosis with NSAIDs-induced antral erosion was made. The patient and his caregivers were briefed about the diagnosis.  Consultation from a multidisciplinary team was done concerning his treatment. Conclusion It is important to diagnose Pycnodysostosis early as it allows proper planning to prevent future fractures. While assessing a patient with short stature with a history of repeated bone fracture Pycnodysostosis should be considered along with other differentials

Study Of Hard Coral (Scleractinia) Recruitment In The Molas Waters, Manado City

Coral recruitment is the entry of new coral individuals into coral reef populations due to reproduction or migration. Juvenile coral is the result of metamorphosis and growth of coral planula measuring 5 cm and attached to certain substrates. There are two types of substrates in the waters, stable substrates and unstable substrates such as rubble. The purpose of this study was to study hard coral recruitment, both in terms of density, the composition of juvenile coral colony types, size, and the type of substrate occupied by juvenile corals. This research was conducted in August 2021 in the waters of Molas, Bunaken District, Manado City. The method used for site selection is the purposive sampling method and data collection using a sampling method with quadrant transects. The results showed that the density of coral recruitment at the study site was 8,43 colonies/m2. The percentage of juvenile coral attachment on stable substrates is 90% and 10% on unstable substrates. The average size of juvenile corals at the study site was 2.4cm. The composition of the juvenile coral genus found at the research site were corals of the genus Acropora, Anacropora, Coeloseris, Cycloseris, Cyphastrea, Echinopora, Favites, Fungia, Galaxea, Goniastrea, Isopora, Leptastrea, Leptoseris, Lobophyllia, Merulina, Montastrea, Montipora, Oulophyllia, Pachyseris, Pavona, Platygyra, Plasiastrea, Pocillopora, Porites, Psammocora, Scolymia, Seriatopora, Symphyllia, and Trachyphyllia. Of the entire genus, corals of the genus Porites were dominated by the number of juveniles as many as 36 colonies.Keywords: Molas, coral, recruitment, ScleractiniaAbstrakRekrutmen karang adalah masuknya individu karang baru pada populasi terumbu karang dikarenakan reproduksi ataupun migrasi.  Juvenil karang merupakan bentuk hasil metamorphosis dan pertumbuhan planula karang yang berukuran ≤ 5 cm dan menempel pada substrat tertentu.  Terdapat dua tipe substrat di perairan, substrat yang stabil dan substrat yang tidak stabil seperti pecahan karang (rubble).  Tujuan penelitian ini adalah untuk mempelajari tentang rekruitmen karang keras, baik dari densitas, komposisi jenis koloni juvenil karang, ukuran, hingga tipe substrat yang ditempati oleh juvenil karang.  Penelitian ini dilakukan pada bulan Agustus 2021 di perairan Molas Kecamatan Bunaken Kota Manado.  Metode yang digunakan untuk pemilihan lokasi adalah metode purposive sampling dan pengumpulan data menggunakan metode sampling dengan transek kuadran.  Hasil penelitian menunjukan bahwa densitas rekruitmen karang pada lokasi penelitian sebesar 8,43 koloni/m2.  Persentase penempelan juvenil karang pada substrat stabil sebesar 90% dan pada substrat yang tidak stabil sebesar 10%.  Ukuran rata-rata dari juvenil karang pada lokasi penelitian adalah 2,4cm.  Komposisi genus juvenil karang yang ditemukan pada lokasi penelitian adalah karang genus Acropora, Anacropora, Coeloseris, Cycloseris, Cyphastrea, Echinopora, Favites, Fungia, Galaxea, Goniastrea, Isopora, Leptastrea, Leptoseris, Lobophyllia, Merulina, Montastrea, Montipora, Oulophyllia, Pachyseris, Pavona, Platygyra, Plasiastrea, Pocillopora, Porites, Psammocora, Scolymia, Seriatopora, Symphyllia, dan Trachyphyllia.  Dari keseluruhan genus, didominasi oleh karang genus Porites dengan jumlah juvenil sebanyak 36 koloni.Kata kunci: Molas, karang, rekrutmen, scleractini

Genetic Introgression and the Survival of Florida Panther Kittens

Estimates of survival for the young of a species are critical for population models. These models can often be improved by determining the effects of management actions and population abundance on this demographic parameter. We used multiple sources of data collected during 1982–2008 and a live-recapture dead-recovery modeling framework to estimate and model survival of Florida panther (Puma concolor coryi) kittens (age 0–1 year). Overall, annual survival of Florida panther kittens was 0.323 ± 0.071 (SE), which was lower than estimates used in previous population models. In 1995, female pumas from Texas (P. c. stanleyana) were released into occupied panther range as part of an intentional introgression program to restore genetic variability. We found that kitten survival generally increased with degree of admixture: F1 admixed and backcrossed to Texas kittens survived better than canonical Florida panther and backcrossed to canonical kittens. Average heterozygosity positively influenced kitten and older panther survival, whereas index of panther abundance negatively influenced kitten survival. Our results provide strong evidence for the positive population-level impact of genetic introgression on Florida panthers. Our approach to integrate data from multiple sources was effective at improving robustness as well as precision of estimates of Florida panther kitten survival, and can be useful in estimating vital rates for other elusive species with sparse data

Chemical abundances in Seyfert galaxies, VII : direct abundance determination of neon based on optical and infrared emission lines

For the first time, neon abundance has been derived in the narrow line region from a sample of Seyfert 2 nuclei. In view of this, we compiled from the literature fluxes of optical and infrared (IR) narrow emission lines for 35 Seyfert 2 nuclei in the local universe (z ∼ 8.80]) an in- crease in Ne/O with O/H is found, which likely indicates secondary stellar production for the neon.Fil: Armah, Mark. Universidade Do Vale Do Paraíba; BrasilFil: Dors, Oli L.. Universidade Do Vale Do Paraíba; BrasilFil: Aydar, C. P.. Universidade de Sao Paulo; BrasilFil: Cardaci, Monica Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Astrofísica La Plata. Universidad Nacional de La Plata. Facultad de Ciencias Astronómicas y Geofísicas. Instituto de Astrofísica La Plata; ArgentinaFil: Hägele, Guillermo Federico. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Astrofísica La Plata. Universidad Nacional de La Plata. Facultad de Ciencias Astronómicas y Geofísicas. Instituto de Astrofísica La Plata; ArgentinaFil: Feltre, Anna. Universidad de Bologna; ItaliaFil: Riffel, R.. Universidade Federal do Rio Grande do Sul; BrasilFil: Riffel, R. A.. Universidade Federal de Santa Maria; BrasilFil: Krabbe, A. C.. Universidade Do Vale Do Paraíba; Brasi

Podoconiosis in East and West Gojam Zones, Northern Ethiopia

Background: Podoconiosis is a neglected tropical disease (NTD) that is prevalent in red clay soil-covered highlands of tropical Africa, Central and South America, and northern India. It is estimated that up to one million cases exist in Ethiopia. This study aimed to estimate the prevalence of podoconiosis in East and West Gojam Zones of Amhara Region in northern Ethiopia. Methodology/Principal Findings: A cross-sectional household survey was conducted in Debre Eliyas and Dembecha woredas (districts) in East and West Gojam Zones, respectively. The survey covered all 17,553 households in 20 kebeles (administrative subunits) randomly selected from the two woredas. A detailed structured interview was conducted on 1,704 cases of podoconiosis identified in the survey. Results: The prevalence of podoconiosis in the population aged 15 years and above was found to be 3.3% (95% CI, 3.2% to 3.6%). 87% of cases were in the economically active age group (15–64 years). On average, patients sought treatment five years after the start of the leg swelling. Most subjects had second (42.7%) or third (36.1%) clinical stage disease, 97.9% had mossy lesions, and 53% had open wounds. On average, patients had five episodes of acute adenolymphangitis (ALA) per year and spent a total of 90 days per year with ALA. The median age of first use of shoes and socks were 22 and 23 years, respectively. More men than women owned more than one pair of shoes (61.1% vs. 50.5%; x2 = 11.6 p = 0.001). At the time of interview, 23.6% of the respondents were barefoot, of whom about two-thirds were women. Conclusions: This study showed high prevalence of podoconiosis and associated morbidities such as ALA, mossy lesions and open wounds in northern Ethiopia. Predominance of cases at early clinical stage of podoconiosis indicates the potential for reversing the swelling and calls for disease prevention interventions

Who stays and who plays? Participant retention and smartphone app usage in a longitudinal travel survey.

Longitudinal studies have become increasingly popular for investigating changes in behaviour, but present additional challenges around participant recruitment, retention, compliance, and ultimately data quality. Personal technologies, particularly smartphones, have become integral to tackling these challenges but come with their own caveats around user acceptance and compliance. The current paper investigates these issues in the context of a longitudinal investigation of interventions designed to encourage use of public transport and increase associated physical activity in Tasmania, Australia. The study comprises multiple waves of data collection over a seven-month period in which travel data were collected using a smartphone app and supplemented with user experience surveys. Evidently attrition is lower for older participants, those engaging with the app more, and those responding to the research/environmental/health messaging of the survey as well as the potential for financial gain. App usage is lower among older participants while app engagement is stronger for males, those recording less travel and those indicating environmental reasons as a motivator for completing the study. Experiences with the app were mixed, participants reported positive sentiments about the ease of use, hedonic motivation, and help in recalling travel; however, concerns were raised over the accuracy of trip recording, the associated burden of correcting trips, and reductions in smartphone battery-life. Despite the unplanned coincidence with the COVID-19 restrictions, outcomes provide important guidance around recruitment, retention and post-hoc analysis of results from longitudinal studies

Epidemiology and individual, household and geographical risk factors of podoconiosis in ethiopia: results from the first nationwide mapping

Although podoconiosis is one of the major causes of tropical lymphoedema and is endemic in Ethiopia its epidemiology and risk factors are poorly understood. Individual-level data for 129,959 individuals from 1,315 communities in 659 woreda (districts) were collected for a nationwide integrated survey of lymphatic filariasis and podoconiosis. Blood samples were tested for circulating Wuchereria bancrofti antigen using immunochromatographic card tests. A clinical algorithm was used to reach a diagnosis of podoconiosis by excluding other potential causes of lymphoedema of the lower limb. Bayesian multilevel models were used to identify individual and environmental risk factors. Overall, 8,110 of 129,959 (6.2%, 95% confidence interval [CI] 6.1-6.4%) surveyed individuals were identified with lymphoedema of the lower limb, of whom 5,253 (4.0%, 95% CI 3.9-4.1%) were confirmed to be podoconiosis cases. In multivariable analysis, being female, older, unmarried, washing the feet less frequently than daily, and being semiskilled or unemployed were significantly associated with increased risk of podoconiosis. Attending formal education and living in a house with a covered floor were associated with decreased risk of podoconiosis. Podoconiosis exhibits marked geographical variation across Ethiopia, with variation in risk associated with variation in rainfall, enhanced vegetation index, and altitude

Spatial distribution of podoconiosis in relation to environmental factors in Ethiopia: a historical review

BACKGROUND An up-to-date and reliable map of podoconiosis is needed to design geographically targeted and cost-effective intervention in Ethiopia. Identifying the ecological correlates of the distribution of podoconiosis is the first step for distribution and risk maps. The objective of this study was to investigate the spatial distribution and ecological correlates of podoconiosis using historical and contemporary survey data. METHODS Data on the observed prevalence of podoconiosis were abstracted from published and unpublished literature into a standardized database, according to strict inclusion and exclusion criteria. In total, 10 studies conducted between 1969 and 2012 were included, and data were available for 401,674 individuals older than 15 years of age from 229 locations. A range of high resolution environmental factors were investigated to determine their association with podoconiosis prevalence, using logistic regression. RESULTS The prevalence of podoconiosis in Ethiopia was estimated at 3.4% (95% CI 3.3%-3.4%) with marked regional variation. We identified significant associations between mean annual Land Surface Temperature (LST), mean annual precipitation, topography of the land and fine soil texture and high prevalence of podoconiosis. The derived maps indicate both widespread occurrence of podoconiosis and a marked variability in prevalence of podoconiosis, with prevalence typically highest at altitudes >1500 m above sea level (masl), with >1500 mm annual rainfall and mean annual LST of 19-21°C. No (or very little) podoconiosis occurred at altitudes 24°C. CONCLUSION Podoconiosis remains a public health problem in Ethiopia over considerable areas of the country, but exhibits marked geographical variation associated in part with key environmental factors. This is work in progress and the results presented here will be refined in future work