scholarly journals MIOPATI KONGENITAL PADA BAYI: SEBUAH LAPORAN KASUS

2019 ◽  
Vol 4 (1) ◽  
pp. 1
Author(s):  
Rangga Adinugraha

Background: The congenital myopathies are group of genetic muscle disorders with a prevalence estimated between 1:22,480 in Sweden and 1:135,000 in Northern England. The most severe forms of congenital myopathy present In infant is the floppy infant with hypotonia and generalized musle weakness, and a frog leg posture, with facial, bulbar and respiratory weakness. We will provide an approach to the diagnosis of congenital myopathies with clinical examination, muscle imaging (MRI), muscle biopsy and identifying the genetic basis. Management of congenital myopathy are treatment of symptoms and complication caused by myopathies. Aim: To report a case of congenital myopathy in infant Case Description: A boy, a month, consulted from pediatric department to neurology department with chief complains the mouth is held in a open position, difficulty in feeding and generalized muscle weakness. From physical examintaion shows hypotonus in the masseter muscle, bulbar, respiration and all of extremities. In the chest cavity show pectus excavatum. Reflexes decrease in all of extremities with phatological reflexes in both lower extremities. We found pneumonia bilateral from thorax X-ray. ENMG shows moderate to severe axonal neuropathy and demyelination on all of extremities with normal EMG results. He received paracetamol 30 mg iv, ampicilin 150 mg iv, gentamicin 12 mg iv. He received exercise and chest fisiotherapy. After 22 days of treatment, he was discharge with clinical improvement. Conclusion: Patient has pneumonia bilateral caused by respiratory weakness congenital myopathy. Follow up and histological features is essential in guiding management for prediction of prognosis.

Author(s):  
C. Wolpers ◽  
R. Blaschke

Scanning microscopy was used to study the surface of human gallstones and the surface of fractures. The specimens were obtained by operation, washed with water, dried at room temperature and shadowcasted with carbon and aluminum. Most of the specimens belong to patients from a series of X-ray follow-up study, examined during the last twenty years. So it was possible to evaluate approximately the age of these gallstones and to get information on the intensity of growing and solving.Cholesterol, a group of bile pigment substances and different salts of calcium, are the main components of human gallstones. By X-ray diffraction technique, infra-red spectroscopy and by chemical analysis it was demonstrated that all three components can be found in any gallstone. In the presence of water cholesterol crystallizes in pane-like plates of the triclinic crystal system.


2017 ◽  
Vol 2 (1) ◽  

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.


1970 ◽  
Vol 24 (2) ◽  
pp. 75-78
Author(s):  
MA Hayee ◽  
QD Mohammad ◽  
H Rahman ◽  
M Hakim ◽  
SM Kibria

A 42-year-old female presented in Neurology Department of Sir Salimullah Medical College with gradually worsening difficulty in talking and eating for the last four months. Examination revealed dystonic tongue, macerated lips due to continuous drooling of saliva and aspirated lungs. She had no history of taking antiparkinsonian, neuroleptics or any other drugs causing dystonia. Chest X-ray revealed aspiration pneumonia corrected later by antibiotics. She was treated with botulinum toxin type-A. Twenty units of toxin was injected in six sites of the tongue. The dystonic tongue became normal by 24 hours. Subsequent 16 weeks follow up showed very good result and the patient now can talk and eat normally. (J Bangladesh Coll Phys Surg 2006; 24: 75-78)


Author(s):  
Gabriella Martino ◽  
Federica Bellone ◽  
Carmelo M. Vicario ◽  
Agostino Gaudio ◽  
Andrea Caputo ◽  
...  

Clinical psychological factors may predict medical diseases. Anxiety level has been associated with osteoporosis, but its role on bone mineral density (BMD) change is still unknown. This study aimed to investigate the association between anxiety levels and both adherence and treatment response to oral bisphosphonates (BPs) in postmenopausal osteoporosis. BMD and anxiety levels were evaluated trough dual-energy X-ray absorptiometry and the Hamilton Anxiety Rating Scale (HAM-A), respectively. Participants received weekly medication with alendronate or risedronate and were grouped according to the HAM-A scores into tertiles (HAM-A 3 > HAM-A 2 > HAM-A 1). After 24 months, BMD changes were different among the HAM-A tertiles. The median lumbar BMD change was significantly greater in both the HAM-A 2 and HAM-A 3 in comparison with the HAM-A 1. The same trend was observed for femoral BMD change. Adherence to BPs was >75% in 68% of patients in the HAM-A 1, 79% of patients in the HAM-A 2, and 89% of patients in the HAM-A 3 (p = 0.0014). After correcting for age, body mass index, depressive symptoms, and the 10-yr. probability of osteoporotic fractures, anxiety levels independently predicted lumbar BMD change (β = 0.3417, SE 0.145, p = 0.02). In conclusion, women with higher anxiety levels reported greater BMD improvement, highlighting that anxiety was associated with adherence and response to osteoporosis medical treatment, although further research on this topic is needed.


Author(s):  
Akın Çinkooğlu ◽  
Selen Bayraktaroğlu ◽  
Naim Ceylan ◽  
Recep Savaş

Abstract Background There is no consensus on the imaging modality to be used in the diagnosis and management of Coronavirus disease 2019 (COVID-19) pneumonia. The purpose of this study was to make a comparison between computed tomography (CT) and chest X-ray (CXR) through a scoring system that can be beneficial to the clinicians in making the triage of patients diagnosed with COVID-19 pneumonia at their initial presentation to the hospital. Results Patients with a negative CXR (30.1%) had significantly lower computed tomography score (CTS) (p < 0.001). Among the lung zones where the only infiltration pattern was ground glass opacity (GGO) on CT images, the ratio of abnormality seen on CXRs was 21.6%. The cut-off value of X-ray score (XRS) to distinguish the patients who needed intensive care at follow-up (n = 12) was 6 (AUC = 0.933, 95% CI = 0.886–0.979, 100% sensitivity, 81% specificity). Conclusions Computed tomography is more effective in the diagnosis of COVID-19 pneumonia at the initial presentation due to the ease detection of GGOs. However, a baseline CXR taken after admission to the hospital can be valuable in predicting patients to be monitored in the intensive care units.


2021 ◽  
Vol 502 (1) ◽  
pp. 1487-1493
Author(s):  
Anton T Jaelani ◽  
Cristian E Rusu ◽  
Issha Kayo ◽  
Anupreeta More ◽  
Alessandro Sonnenfeld ◽  
...  

ABSTRACT We present spectroscopic confirmation of three new two-image gravitationally lensed quasars, compiled from existing strong lens and X-ray catalogues. Images of HSC J091843.27–022007.5 show a red galaxy with two blue point sources at either side, separated by 2.26 arcsec. This system has a source and a lens redshifts zs = 0.804 and zℓ = 0.459, respectively, as obtained by our follow-up spectroscopic data. CXCO J100201.50+020330.0 shows two point sources separated by 0.85 arcsec on either side of an early-type galaxy. The follow-up spectroscopic data confirm the fainter quasar has the same redshift with the brighter quasar from the Sloan Digital Sky Survey (SDSS) fiber spectrum at zs = 2.016. The deflecting foreground galaxy is a typical early-type galaxy at a redshift of zℓ = 0.439. SDSS J135944.21+012809.8 has two point sources with quasar spectra at the same redshift zs = 1.096, separated by 1.05 arcsec, and fits to the HSC images confirm the presence of a galaxy between these. These discoveries demonstrate the power of the Hyper Suprime-Cam Subaru Strategic Program (HSC-SSP)’s deep imaging and wide sky coverage. Combined with existing X-ray source catalogues and follow-up spectroscopy, the HSC-SSP provides us unique opportunities to find multiple-image quasars lensed by a foreground galaxy.


1985 ◽  
Vol 18 (7) ◽  
pp. 536
Author(s):  
U. Munzinger ◽  
N. Gschwend ◽  
H. Scheier ◽  
O. Frey ◽  
U. Wyss
Keyword(s):  

PEDIATRICS ◽  
1987 ◽  
Vol 80 (3) ◽  
pp. 315-318
Author(s):  
M. Douglas Baker ◽  
Patricia D. Fosarelli ◽  
Richard O. Carpenter

Many people believe that temperature response to antipyretics in febrile children varies according to diagnosis. To evaluate the validity of this premise, we prospectively studied the temperature response to acetaminophen of febrile children who came to an urban pediatric emergency and walk-in facility. The study group consisted of 1,559 patients between the ages of 8 weeks and 6 years whose temperatures when seen were greater than 38.4°C and who had not received antipyretic treatment within the previous four hours. Acetaminophen (15 mg/kg) was administered to each child and repeat temperatures were taken one and two hours later. Patient management was unaffected by the study, and physicians were unaware of the repeat temperature measurements. Telephone follow-up was conducted with the parents of each child within five days of the initial visit. Children with cultures positive for bacterial disease or chest x-ray films positive for pneumonia had slightly greater one- and two-hour temperature decreases compared with children with other diagnoses. Although statistically significant, we do not consider these differences in response to be clinically useful. We conclude that fever response to acetaminophen is not a clinically useful indicator by which to differentiate the causes of febrile illnesses in young children.


2021 ◽  
Vol 53 (05) ◽  
pp. 462-466
Author(s):  
Jun-Ku Lee ◽  
Soonchul Lee ◽  
SeongJu Choi ◽  
Dong Hun Han ◽  
Jongbeom Oh ◽  
...  

Abstract Purpose To report the clinical and radiographic results of arthrodesis of relatively small-sized distal interphalangeal joints (DIPJs) using only K-wire fixation. Patients and methods Between January 2000 and December 2018 28 arthrodesis in 21 patients (9 males and 12 females with an average age of 52.1 years) with relatively small-sized DIPJs were performed using only K-wires. Data on patient’s characteristics, such as age, sex, affected finger, and the number and size of the used k-wires were collected from the medical database. The narrowest diameter of the cortex and medulla of the distal phalanx was measured on preoperative plain radiographs. The time to union and the arthrodesis angle was determined using serial X-ray radiography follow-up. Preoperatively and at the latest follow-up examination, pain using the visual analogue scale (VAS) and the quick DASH score was registered. In addition, complications were investigated. Results Average follow-up period was 11.4 months. The small finger was mostly affected (n = 12; 42.9 %). The narrowest diameters of the distal phalanx cortex and the medulla measured on preoperative X-ray images were 2.8 mm (SD 0.5) and 1.2 mm (SD 0.4), respectively. Seven fusions were done with use of 1 K-wire, 20 with 2 (71.4 %), and 1 with 3 K-wires. The most common K-wire sizes were 1.1-inch (24 K-wires = 48 %), and 0.9 inch (21 K-wires = 42 %) The preoperative VAS score and quick DASH score improved from 6.1 (range: 0–9) and 25.8 (range: 2–38) to 0.4 (range: 0–2) and 3.4 (range: 0–10.2), respectively. 25 (89.3 %) out of 28 fingers achieved bony union in an average of 96.1 days (range: 58–114) with three non-union. Conclusion Arthrodesis of small DIPJs with K-wire fixation has a high success rate. Therefore, we suggest K-wire fixation as an acceptable alternative for patients with a small phalanx which may be at risk of mismatch with bigger implants. However, concerns remain in terms of fusion delay with K-wire only fixation.


PEDIATRICS ◽  
1972 ◽  
Vol 50 (4) ◽  
pp. 625-631
Author(s):  
Larry P. Kammholz ◽  
L. Gilbert Thatcher ◽  
Frederic M. Blodgett ◽  
Thomas A. Good

A rapid fluorescent method for estimation of free erythrocyte protoporphyrin (FEP) is described. Simple ethyl acetate-glacial acetic acid extractions are performed, fluorescence quantitated in a fluorimeter and expressed numerically by comparison with known coproporphyrin standards. Fifty-six children were studied and the extent of lead poisoning was evaluated initially and at different follow-up intervals. A clear relationship was shown between FEP fluorescence and blood lead levels. A correlation was also seen for the intensity of fluorescence and evidence for increased absorption of lead, as estimated by x-ray evidence of ingested lead and deposits in bone. Children with iron deficiency anemia also showed elevations of FEP fluorescence. This FEP fluorescence test allows for a rapid, numerical determination which appears to be useful as a screening test for lead intoxication. It can quickly select patients that may have markedly increased lead absorption and need prompt therapy or select those that at least require further studies for possible lead exposure or the presence of anemia.


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