Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

2020 ◽  
Author(s):  
Irena Bradinova ◽  
Silvia Andonova ◽  
Alexey Savov
Keyword(s):  
Clinical Signs ◽  
Final Diagnosis ◽  
Population Based ◽  
Neuromuscular Disorder ◽  
Population Characteristics ◽  
High Risk Population ◽  
Pontocerebellar Hypoplasia ◽  
Clinical Genetic ◽  
Retrospective Diagnosis ◽  
Newborn Children

AbstractPontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mutations in EXOSC3 gene. High prevalence of the p.Gly31Ala mutation was found recently, especially in the Roma ethnic minority. We present a young Bulgarian Roma family with two deceased newborn children manifesting severe neuromuscular disorder including severe muscle weakness, respiratory distress, and multiple joint contractures. Based on the clinical signs and family's population characteristics, DNA testing for the previously described EXOSC3 in Bulgarian Roma mutation c.92G > C; p.Gly31Ala was performed on blood samples of both parents and they were found to be heterozygous carriers. This finding indirectly confirmed the diagnosis of pontocerebellar hypoplasia type B in the deceased offspring. Knowledge of population-specific molecular bases of genetic conditions was the key to final diagnosis in the presented family. Designing of population-based clinical-genetic panels may be a powerful diagnostic tool for patients with such origin. Preconception carrier screening in high-risk population groups is a feasible option to discuss.

Evaluation of Airway Complications in High-Risk Preterm Infants: Application of Flexible Fiberoptic Airway Endoscopy

PEDIATRICS ◽  
1995 ◽  
Vol 95 (4) ◽  
pp. 567-572
Author(s):  
Gregory J. Downing ◽  
Howard W. Kilbride
Keyword(s):  
High Risk ◽  
Preterm Infants ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Subglottic Stenosis ◽  
High Risk Population ◽  
Risk Population ◽  
Airway Complications ◽  
Airway Injury ◽  
Airway Abnormalities

Objectives. We sought to determine factors that would predict the development of subglottic stenosis (SGS) and tracheomalacia (TM) in preterm infants. The utility of a semiquantitative measurement of airway dimensions was assessed in relation to signs of airway complications. We also sought to determine from a high-risk population of infants those likely to have abnormal findings identified by bronchoscopic examination. Methods. Prospective airway endoscopy was performed for preterm infants who were intubated for 7 days or more or who demonstrated chronic oxygen needs beyond 28 days after birth and 36 weeks postconceptional age. Subjects were 117 preterm (less than 36 weeks' gestation) infants from two level III intensive care nurseries. Endoscopy was used to classify the type and degree of airway injury. Subglottic stenosis was defined subjectively and compared with an objective measurement using subglottic spatial relations described as a trans- subglottic/vocal cord ratio (TSG/VC). Clinical signs and symptoms and other risk factors were evaluated as significant predictors of SGS and TM, identified by bronchoscopy. Results. Moderate or severe airway abnormalities were identified in 32 patients (27.3%); 13 with SGS, 17 with TM, and 2 with both. All but one infant with TSG/VC less than 0.83 had signs and symptoms of airway dysfunction. Variables more commonly found in patients with SGS included greater number of intubations, use of inappropriately large endotracheal tubes, and longer duration of intubation. Higher averaged mean airway pressure during the first week after birth and lower gestational age were clinical features associated with TM. Conclusions. Flexible bronchoscopic evaluation of a high-risk population demonstrated a higher incidence of moderate or severe SGS or TM than previously suspected. Subglottic stenosis and TM appear to have different etiologies based on different factors associated with their development. The TSG/VC ratio correlated well with obstructive symptoms and may represent a means to quantitate clinically subglottic narrowing. Infants with chronic lung disease who have persistently elevated partial pressure of carbon dioxide, apnea, or phonation abnormalities are most likely to have airway abnormalities identifiable by bronchoscopy.

Could a low-cost audio-visual link be useful in rheumatology?

2000 ◽  
Vol 6 (1_suppl) ◽  
pp. 35-37 ◽  
Author(s):  
L E Graham ◽  
S Mcgimpsey ◽  
S Wright ◽  
G Mcclean ◽  
J Carser ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Gold Standard ◽  
Junior Doctor ◽  
Low Cost ◽  
Clinical Signs ◽  
Final Diagnosis ◽  
Provisional Diagnosis ◽  
Face To Face ◽  
Significant Difference ◽  
Small Joint

We have investigated prospectively the diagnostic accuracy, specialist satisfaction and patient–specialist rapport of a low-cost audio-visual link between a junior doctor with a patient and a consultant rheumatologist. Using a telephone link and subsequently a video-phone link, 20 patients, with various rheumatological problems, were presented by a junior doctor to the consultant rheumatologist for provisional diagnosis. All patients were then seen face to face by the consultant, when a final diagnosis was made. An independent consultant rheumatologist made a ‘gold standard’ diagnosis. Thirty-five per cent of diagnoses were made correctly over the telephone and 40% over the video-phone – there was no significant difference in the diagnostic accuracy between these two methods of communication. Rapport over the video-phone was universally poor. Where it was important, clinical signs could not be visualized over the video-phone and in more than 85% of cases small joint swellings could not be seen clearly.

scholarly journals Pre-diagnostic drop out of presumptive TB patients and its associated factors at Bugembe Health Centre IV in Jinja, Uganda

2020 ◽  
Vol 20 (2) ◽  
pp. 633-640
Author(s):  
Godfrey Ekuka ◽  
Ismael Kawooya ◽  
Edward Kayongo ◽  
Ronald Ssenyonga ◽  
Frank Mugabe ◽  
...  
Keyword(s):  
Associated Factors ◽  
Health Centre ◽  
Significant Proportion ◽  
Final Diagnosis ◽  
Drop Out ◽  
Population Characteristics ◽  
Dropping Out ◽  
Keywords Tuberculosis ◽  
Male Patients ◽  
The Individual

Background: Drop out of presumptive TB individuals before making a final diagnosis poses a danger to the individual and their community. We aimed to determine the proportion of these presumptive TB drop outs and their associated factors in Bugembe Health Centre, Jinja, Uganda. Methods: We used data from the DHIS2, presumptive and laboratory registers of Bugembe Health Centre IV for 2017. Descriptive statistics were used to summarize the population characteristics. A modified Poisson regression model via the generalized linear model (GLM) with log link and robust standard errors was used for bivariate and multivariate analysis. Results: Among the 216 registered presumptive TB patients who were less than 1% of patients visiting the outpatients’ department, 40.7% dropped out before final diagnosis was made. Age and HIV status were significantly associated with pre-diagnostic drop out while gender and distance from the health center were not. Conclusion: A high risk to individuals and the community is posed by the significant proportion of presumptive TB pa- tients dropping out before final diagnosis. Health systems managers need to consider interventions targeting young persons, male patients, HIV positive persons. Keywords: Tuberculosis (TB); Pre-diagnostic drop out; Presumptive TB; SORT IT.

scholarly journals Population characteristics of Silaum silaus (L.) Schinz & Thell. (Apiaceae) in Mordovia, a highly threatened plant species at the northern limit of its range

2018 ◽  
Vol 10 (1) ◽  
pp. 11147
Author(s):  
Anatoliy A. Khapugin
Keyword(s):  
Germination Rate ◽  
Population Based ◽  
Fruit Production ◽  
Livestock Grazing ◽  
Population Characteristics ◽  
Native Range ◽  
Northern Limit ◽  
Central Russia ◽  
Threatened Plant Species ◽  
The Republic

Knowledge on status of peripheral plant populations is important for understanding of species’ adaptation and evolution within their ranges.  There is a lack of data on the status of Silaum silaus (Apiaceae) populations at the periphery of its native range.  One of the most northern native S. silaus populations is situated in the Republic of Mordovia (Central Russia).  This species is considered as Critically Endangered in the region.  Population-based studies of S. silaus have been carried out. Reproductive biology, morphometric parameters of individuals, accompanying flora, seed characteristics (mass, germination rate) were investigated.  Results showed that at the northern limit of the range S. silaus grows in floodplain meadow community previously disturbed by livestock grazing. The area occupied by the population, however, has increased more than 12 fold over the last 15 years. Increasing fruit production together with decreasing fruit mass was established for the studied population compared to populations in the central part of its native range.  In addition, germination rate was very low (2.3–16.7 % depending on edaphic conditions).  Additional studies of S. silaus populations are needed in saline steppes of the closely located territories where it occurs as one of the dominant species in the plant community.

Clinical Findings, Treatments and Outcomes in Farm Animals with Vertebral Fractures or Luxations: 22 Cases (2006–2017)

2019 ◽  
Vol 32 (06) ◽  
pp. 492-498 ◽  
Author(s):  
Sophie Boorman ◽  
Amy L. Johnson ◽  
Thomas P. Schaer ◽  
Marie-Eve Fecteau
Keyword(s):  
Vertebral Fracture ◽  
Neurological Examination ◽  
Clinical Signs ◽  
Final Diagnosis ◽  
Clinical Findings ◽  
Farm Animals ◽  
Cervical Region ◽  
Surgical Interventions ◽  
Cerclage Wire ◽  
Pin Fixation

Objective The aim of this study was to describe the signalment, clinical presentation, diagnostic findings, medical and surgical treatment and outcome of 22 farm animals diagnosed with a vertebral fracture or luxation. Study design Medical records of 22 farm animals (7 goats, 6 alpacas, 5 cattle, 3 sheep and 1 deer) were reviewed for signalment, history, presenting clinical signs and neurological examination findings, clinicopathological results, diagnostic imaging, final diagnosis, medical and surgical management, clinical progression and outcome. Results Animals' age ranged from 1 day to 15 years. Neurological examination findings included decreased motor function (20/22), recumbency (14/22), altered mentation (13/22), cranial nerve deficits (4/22) and lack of nociception (3/22). Lesions were localized to the atlanto-occipital region (2/22), C1 to C5 (7/22), C6 to T2 (4/22), T3 to L3 (3/22), and L4 to S1 (6/22). Diagnoses included vertebral fracture only (4/22), luxation only (5/22) or both vertebral fracture and luxation (13/22). In five cases, no therapy was attempted, while 12 cases were treated medically and five cases were treated surgically. Surgical interventions included manual reduction (n = 1); arthrodesis (n = 2); laminectomy (n = 1); and laminectomy with pin fixation, cerclage wire and polymethylmethacrylate bridging (n = 1). Five of the 22 cases survived to hospital discharge; two of these were treated surgically. Conclusion The cervical region was most commonly affected. Prognosis for these injuries in farm animals is guarded.

scholarly journals 164 Dementia, a Familial Affair

2019 ◽  
Vol 48 (Supplement_3) ◽  
pp. iii17-iii65
Author(s):  
Aqueel Qureshi ◽  
Ahmed Gabr ◽  
Daniel Zulkifli ◽  
Elijah Chaila ◽  
Margaret O'Connor
Keyword(s):  
Family History ◽  
Rare Case ◽  
Clinical Signs ◽  
Final Diagnosis ◽  
Clinical Findings ◽  
Post Mortem ◽  
Mri Findings ◽  
Progressive Dementia ◽  
Familial Predisposition ◽  
Rasmussen’S Encephalitis

Abstract Background In Ireland, there are approximately 55,000 cases of dementia. One of the rare causes of dementia is Creutzfeldt-Jakob disease (CJD), affecting one person per million each year worldwide. It is a rapidly progressive degenerative fatal disorder with an estimated mortality of 70% within one year. In this case report we present a rare case of possible familial-CJD which presented initially as a stroke mimic. Methods A 64-year old female referred via GP with abnormal left arm athetoid movements and in-coordination. MRI brain demonstrated a small sub-acute hyper-intense lesion in the right basal ganglia on diffusion weighted imaging. Her symptoms were atypical for acute stroke, however an alternative cause was not evident. She was monitored closely with early supported discharge. However the left sided athetoid movements worsened and were associated with intermittent myoclonic jerks and dystonic posturing. She was reassessed with a wider differential including focal impaired seizures, Rasmussen’s encephalitis, and CJD. EEG showed periodic lateralizing epileptic discharges, however patient failed to show any response to anti-epileptic treatment and her clinical course was one of rapid deterioration. Clinical findings and subsequent MRI findings showed new areas of hyperintensity supporting CJD. Results Ultimately our patient deteriorated rapidly resulting in an akinetic and abulic state, resulting in death. A final diagnosis of sporadic-CJD was made based on rapid progressive deterioration and findings on MRI as well as confirmation on post-mortem brain pathology. A deeper review of family history revealed a sister who had passed away years prior with rapid progressive neurological illness. Her work-up showed clinical signs and EEG findings supporting CJD, however there was no post mortem to confirm her diagnosis. Conclusion This case highlights the importance of genetics shaping phenotypes and that consideration should always be given to a full relevant family history. It also shows a rare case of rapidly progressive dementia confirmed due to CJD with a likely underlying familial predisposition.

Spontaneous gastric rupture presenting as severe pneumoperitoneum in a cat with presumed idiopathic gastric ulceration

2020 ◽  
Vol 8 (1) ◽  
pp. e001049 ◽  
Author(s):  
Luis Mate de Haro ◽  
Beatriz Moreno-Aguado ◽  
Juan Martí ◽  
Darren Kelly
Keyword(s):  
Histological Analysis ◽  
Clinical Signs ◽  
Final Diagnosis ◽  
Acute Onset ◽  
Gastric Ulceration ◽  
Neoplastic Disease ◽  
Perforated Gastric Ulcer ◽  
Gastric Rupture ◽  
Septic Peritonitis ◽  
Diagnostic Investigations

An 11-year-old female British blue cat was referred for investigation of acute onset vomiting and marked abdominal enlargement. Diagnostic investigations confirmed a large volume of free gas within the abdomen and changes highly suspicious of an ulcerative gastric lesion. Exploratory surgery confirmed the presence of a perforated gastric ulcer and histological analysis showed only associated inflammatory change. The ulcerated lesions were resected, and the cat recovered rapidly with complete resolution of clinical signs. Spontaneous gastric rupture due complete perforation of an ulcer is rarely reported in cats. The vast majority of reported cases present with septic peritonitis, and the majority are subsequently diagnosed with neoplastic disease or a chronic inflammatory aetiology. The cat reported here had no evidence of septic peritonitis, and the authors feel a final diagnosis of idiopathic gastric ulceration is most likely.

scholarly journals Atypical bovine interstitial pneumonia in a semi-intensive beef cattle system

2017 ◽  
Vol 47 (11) ◽  
Author(s):  
Ana Carolina Barreto Coelho ◽  
Plínio Aguiar Oliveira ◽  
Bianca Lemos dos Santos ◽  
Pablo Estima-Silva ◽  
Haide Valeska Scheid ◽  
...  
Keyword(s):  
Interstitial Pneumonia ◽  
Clinical Signs ◽  
Epidemiological Data ◽  
Neutrophil Infiltration ◽  
Final Diagnosis ◽  
Histopathological Analysis ◽  
Clinical Evolution ◽  
Angus Cattle ◽  
Abdominal Breathing ◽  
Evolution Period

ABSTRACT: The aim of the present study was to describe an outbreak of atypical interstitial pneumonia affecting 15 Angus cattle aged 7-30 months in the south of Rio Grande do Sul. The clinical course of the disease was approximately 1-3 days. The cattle were kept in the native field and had received feed containing the remains of wafers from a food factory before the outbreak. Clinical signs included dyspnea and abdominal breathing, with a clinical evolution period of up to 3 days. Nine animals presented apathy and respiratory difficulty and died within 24h, while three animals exhibited a clinical evolution period of 36-48h. Three other animals died without any clinical signs. The main macroscopic lesions were observed in the lungs, which did not collapse at the opening of the thoracic cavity and showed a rubbery consistency. On the cut surface, the organs were firm and dark red, with marked distension of the interlobular septa due to edema. Histopathological analysis revealed thickening of the interlobular pulmonary septa; interstitial edema and emphysema; mild mononuclear cell, eosinophil, and neutrophil infiltration; areas of type II pneumocyte proliferation, and thickening of the alveolar walls. Fibrin was observed in the alveolar lumen with the formation of hyaline membranes. On the basis of macroscopic and histological examinations and epidemiological data, a final diagnosis of atypical interstitial pneumonia was made. Although, the cause of the disease has not been identified, it is believed that the bran wafer meal contained ingredients that were not suitable for animals, consequently triggering the disease.

scholarly journals Ascertainment of Informative Alzheimer Disease Families from the IMAGE Project Registry for Genetic Linkage Analysis Studies

1989 ◽  
Vol 16 (S4) ◽  
pp. 468-472 ◽  
Author(s):  
D. Gautrin ◽  
J. Nalbantoglu ◽  
G. Lacoste-Royal ◽  
M. Grenon ◽  
S. Gauthier ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Linkage Analysis ◽  
Cognitive Deficits ◽  
Genetic Linkage ◽  
Population Based ◽  
Genetic Linkage Analysis ◽  
Retrospective Diagnosis ◽  
Family Medical History ◽  
Informative Family ◽  
Close Relatives

ABSTRACT:Genetic linkage analysis requires the identification and documentation of large families with many affected members present, preferably in more than one generation. The IMAGE Project has been establishing a population- based Alzheimer disease (AD) registry in the Saguenay - Lac-Saint-Jean region of the Province of Quebec. The population of this region has a well-documented ancestry, with reliable genealogical records (since 1842) computerized by SORER We have recently begun to investigate the pedigrees of selected probands (definite, probable and possible) from the IMAGE registry in order to identify informative pedigrees for genetic linkage analysis. Interviews were carried out with close relatives of the probands (at least one informant per sibship) to identify secondary AD cases. The questionnaires used pertain to the accuracy of genealogical records, to family medical history and to a retrospective diagnosis of AD for people with cognitive deficits. By these means, we have documented a large extended pedigree in which a total of 15 individuals with cognitive deficits were ascertained over three generations. Of these cases, 7 are still living and there is autopsy confirmation in another one. Computer simulations using the program SIMLINK revealed that this is a potentially informative family for linkage analysis. Horizontal extension of the pedigree to second cousins of the proband is now being carried out. This will render the family IMAGE/1 even more informative in genetic linkage analysis studies.

scholarly journals Syringocystadenoma Papilliferum of the Bony External Auditory Canal: A Rare Tumor in a Rare Location

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Anastasija Arechvo ◽  
Svajunas Balseris ◽  
Laura Neverauskiene ◽  
Irina Arechvo
Keyword(s):  
External Auditory Canal ◽  
Clinical Signs ◽  
Surgical Excision ◽  
Final Diagnosis ◽  
Epidermal Cyst ◽  
Syringocystadenoma Papilliferum ◽  
Rare Benign Tumor ◽  
Rare Location ◽  
Histological Characteristics ◽  
Bony Segment

Tumors originating from ceruminous glands are rare lesions of the external auditory canal. The lack of specific clinical and radiological signs makes their diagnosis challenging. We report the case of an exceptionally rare benign tumor, a syringocystadenoma papilliferum (SCAP), in an atypical location in the bony segment of the external auditory canal with uncommon clinical signs. The special traits of the case included the following: the most lateral component of the tumor was macroscopically cystic and a granular myringitis with an obstructing keratin mass plug was observed behind the mass. The clinical, audiological, radiological, and histological characteristics of the neoplasm are consequently presented. Intraoperative diagnosis of the epidermal cyst was proposed. The final diagnosis of SCAP was determined only by histological analysis after the surgical excision. The educational aspects of the case are critically discussed.

Sign in / Sign up

Export Citation Format

Share Document