scholarly journals Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
M. M. Hitzert ◽  
S. N. van der Crabben ◽  
G. Baldewsingh ◽  
H. K. Ploos van Amstel ◽  
A. van den Wijngaard ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Features ◽  
Founder Mutation ◽  
Type B ◽  
Management Guidelines ◽  
Clinical Criteria ◽  
Clinical Diagnostic ◽  
Mandibuloacral Dysplasia ◽  
Minor Criteria ◽  
Clinical Diagnostic Criteria

Abstract Background Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, generalized lipodystrophy, insulin resistance, metabolic complications and skeletal features like stunted growth, mandibular and clavicular hypoplasia and acro-osteolysis of the distal phalanges. MADB is caused by reduced activity of the enzyme zinc metalloprotease ZMPSTE24 resulting from compound heterozygous or homozygous mutations in ZMPSTE24. Methods In 2012, and again in 2018, eight related patients from the remote tropical rainforest of inland Suriname were analysed for dysmorphic features. DNA analysis was performed and clinical features were documented. We also analysed all previously reported genetically confirmed MADB patients from literature (n = 12) for their clinical features. Based on the features of all cases (n = 20) we defined major criteria as those present in 85–100% of all MADB patients and minor criteria as those present in 70–84% of patients. Results All the Surinamese patients are of African descent and share the same homozygous c.1196A > G, p.(Tyr399Cys) missense variant in the ZMPSTE24 gene, confirming MADB. Major criteria were found to be: short stature, clavicular hypoplasia, delayed closure of cranial sutures, high palate, mandibular hypoplasia, dental crowding, acro-osteolysis of the distal phalanges, hypoplastic nails, brittle and/or sparse hair, mottled pigmentation, atrophic and sclerodermic skin, and calcified skin nodules. Minor criteria were (generalized or partial) lipoatrophy of the extremities, joint contractures and shortened phalanges. Based on our detailed clinical observations, and a review of previously described cases, we propose that the clinical diagnosis of MADB is highly likely if a patient exhibits ≥4 major clinical criteria OR ≥ 3 major clinical criteria and ≥ 2 minor clinical criteria. Conclusions We report on eight related Surinamese patients with MADB due to a homozygous founder mutation in ZMPSTE24. In low-income countries laboratory facilities for molecular genetic testing are scarce or lacking. However, because diagnosing MADB is essential for guiding clinical management and for family counselling, we defined clinical diagnostic criteria and suggest management guidelines.

scholarly journals Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eva Pinti ◽  
Krisztina Nemeth ◽  
Krisztina Staub ◽  
Anna Lengyel ◽  
Gyorgy Fekete ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Neurofibromatosis Type ◽  
Early Years ◽  
Diagnostic Efficiency ◽  
Clinical Criteria ◽  
Pathogenic Variants ◽  
Clinical Diagnostic ◽  
Long Time ◽  
Diagnostic Difficulties ◽  
Clinical Diagnostic Criteria

Abstract Background Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1’s clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing. Methods To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1’s National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes’ overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data. Results In our cohort the utility of NF1’s clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes’ diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist. Conclusions Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.

scholarly journals Validation of the Proposed Clinical Diagnostic Criteria of Enteric Fever

2014 ◽  
Vol 10 (4) ◽  
pp. 8-11
Author(s):  
A Neopane ◽  
S Panta
Keyword(s):  
Diagnostic Criteria ◽  
Likelihood Ratio ◽  
Enteric Fever ◽  
Positive Likelihood Ratio ◽  
College Teaching ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criterion ◽  
Minor Criteria ◽  
Diagnostic Criterion ◽  
Clinical Diagnostic Criteria

Background Enteric fever is very common infectious disease in developing countries like Nepal. Due to lack of resources diagnosis has to be clinical most of the time. Hence a proposal of clinical diagnostic criteria and validation of the same would be very useful. Objective To validate the proposed clinical diagnostic criterion including features characterized as major and minor criteria Methods This study was done in the department of medicine of Kathmandu Medical College Teaching hospital, from June 2009 to January 2012. A total of 114 patients presenting with fever were included in the study. After proposal of clinical diagnostic criteria for enteric fever, by a prior published study, all the fever patients were grouped according to criteria positive or negative. The most significant criteria were validated by calculating sensitivity and specificity along with positive and negative likelihood ratios with blood culture taken as gold standard. Results A total of 114 patients were enrolled. Total patients diagnosed as enteric was 47.3 %. Clinical diagnostic criterion B which included three major (headache, fever and relative bradycardia) and three minor criteria (abdominal pain, vomiting, diarrhea, splenomegaly and chills) was highly significant (p=<.0001) in diagnosing enteric fever and had a sensitivity of 72.2% ( 95% CI 58.1- 83.1) and specificity of 98.3% ( 95% CI 89.8-99-9). The positive likelihood ratio was 43.33 (95 % CI 6.16-304.77) and negative likelihood ratio as 0.28 (95% CI 0.18-0.43). Conclusion Clinical diagnostic criteria can be a very useful tool for diagnosis of enteric fever when culture facility is not available. DOI: http://dx.doi.org/10.3126/kumj.v10i4.10986 Kathmandu Univ Med J 2012;10(4):8-11

Pre Congress Programs

2015 ◽  
Vol 27 (S1) ◽  
pp. S173-S191
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Guidelines ◽  
Imaging Modalities ◽  
Clinical Criteria ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

Imaging is increasingly being used by clinicians to enhance accuracy of diagnosis and to give important information regarding co-morbid pathologies which have an impact on management and prognosis. Imaging changes are increasingly entering clinical diagnostic criteria, and consensus clinical criteria for all main subtypes of dementia now include information about imaging changes. In addition, many clinical guidelines for dementia emphasize the need for informed, appropriate application of different imaging modalities in varying clinical situations.

An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Meera Shaunak ◽  
Lucy Side ◽  
Nadeem Afzal ◽  
Justin Huw Davies
Keyword(s):  
Diagnostic Criteria ◽  
Gastrointestinal Symptoms ◽  
Bone Age ◽  
Atypical Presentation ◽  
Gene Variant ◽  
Stk11 Gene ◽  
Clinical Criteria ◽  
Clinical Diagnostic ◽  
Peutz Jeghers Syndrome ◽  
Clinical Diagnostic Criteria

Abstract Objectives To report an atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS). Case presentation Two siblings presented with prepubertal gynaecomastia and bilateral macro-orchidism, without mucocutaneous pigmentation or gastrointestinal symptoms. There was no family history of PJS. Sibling 1 had unilateral gynaecomastia. Sibling 2 had bilateral gynaecomastia, advanced bone age and bilateral testicular microlithiasis, not indicative of a large-cell calcifying Sertoli cell tumour. Genetics revealed a paternally inherited heterozygous pathogenic STK11 variant (910C>T) in both siblings. The diagnosis was confirmed following the identification of multiple intestinal polyps in their father. Conclusions Prepubertal gynaecomastia and prepubertal macro-orchidism (testicular enlargement without virilisation), always warrant endocrinological investigation, with PJS being an important differential diagnosis. Children may not fulfil the clinical criteria for a diagnosis of PJS at presentation. Genetic testing and gastroenterological investigation of parents may aid diagnosis.

scholarly journals GEJALA KLINIS SEBAGAI PREDIKTOR PADA KARSINOMA SEL BASAL

Biomedika ◽  
2012 ◽  
Vol 5 (1) ◽  
Author(s):  
Ratih Pramuningtyas ◽  
Prasetyadi Mawardi
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Diagnostic Criteria ◽  
Clinical Diagnosis ◽  
Basal Cell ◽  
Histopathological Examination ◽  
Clinical Criteria ◽  
Clinical Diagnostic ◽  
Skin Cancers ◽  
Clinical Diagnostic Criteria

Basal Cell Carcinoma (BCC) incidence is 75% of all skin cancers. BCC rarely causing mortality, but morbidity is high. Clinical diagnostic is the early detection of BCC suspicion, therefore, we required specific criteria that help to establish the clinical diagnosis. The objective of this study was to know the clinical sign as a predictor of basal cell carcinoma. Ten patients with skin tumors who came to dermatovenereological department of Dr. Moewardi hospital were included in this study. Clinical diagnosis using clinical criteria from keratinocyte carcinoma in A Cancer Journal For Clinicians in 2011 (Teleangiectasion, raise border, erythematous with bleeding, pigmentation, translucent appearance, and scarlike appearance) was used as reference of clinical diagnostic criteria. Histopathological examination was performed as a gold standard. All 10 subjects had histopathological finding consistent to BCC. The clinical examination like pigmentation were found in all subjects while teleangiectasia, raise border, erythema with bleeding were found on 9 subject. Translucent appearance was found on 6 subjects. While scarlike appearance was absent in all subjects. The criteria from keratinocyte carcinoma in A Cancer Journal For Clinicians in 2011 can be used to diagnosed BCC clinicallyKeywords : Basal cell carcinoma, Clinical Diagnostic Criteria

scholarly journals MRI is Unnecessary for Diagnosing Acute Achilles Tendon Ruptures: Clinical Diagnostic Criteria

2012 ◽  
Vol 470 (8) ◽  
pp. 2268-2273 ◽  
Author(s):  
David N. Garras ◽  
Steven M. Raikin ◽  
Suneel B. Bhat ◽  
Nicholas Taweel ◽  
Homyar Karanjia
Keyword(s):  
Achilles Tendon ◽  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Tendon Ruptures ◽  
Clinical Diagnostic Criteria

Clinical diagnostic criteria of modern spice addiction

2017 ◽  
Vol 41 (S1) ◽  
pp. s880-s880
Author(s):  
I. Sosin ◽  
Y. Chuev ◽  
G. Misko ◽  
O. Goncharova
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Laboratory ◽  
Psychological Testing ◽  
Synthetic Analogues ◽  
Clinical Diagnostic ◽  
Hoarse Voice ◽  
Sexual Disinhibition ◽  
Competing Interest ◽  
Clinical Diagnostic Criteria

IntroductionPopulations of spice addicts in Ukraine demonstrate distinct tendency for steady spreading, and transitory psychotic episodes, overdosing and fatal cases are being registered in consequence of smoking. “Spice” are synthetic analogues of tetrahydrocannabinol.Aims and objectivesTo develop an average personified clinical portrait of spice addict for more specified therapy.MethodTwelve patients who consumed spices systematically for 1–2 years were observed. Methods of examination: clinical psychopathological, psychological testing, clinical laboratory.ResultsMain spice addiction diagnostic criteria were: Spice smoking, obsessive and uncontrolled anosognosic desire and craving to test on themselves effects of their action, pathognomonic tolerance increase, specific post-intoxication consequences. After the first smoke inspiration heavy intoxication with euphoria and loss of surrounding real perception, sexual disinhibition and craving to repeat smoking manifested after the first smoke inspiration. Then, spice smoking became subjectively pleasant, caused condition of intoxication with increased mood, fussiness, was accompanied with feeling of hunger, thirst, and hoarse voice. In the patients rather quickly (for 2–3 weeks) twice reduced duration of intoxication state from 40 to 20 minutes, loss of situation and quantitative control over smoking was observed. Clinical specifics of addiction for spices smoking is rather quick (from 5 to 10 trials) formation of psychic equivalent of addiction, extremely intensive and emotionally saturated craving for smoking, quick rise of tolerance with loss of situational and quantitative control over smoking.ConclusionsDefinite rules in the development and formation of spice dependence is necessary to be considered while developing programs for therapy and prevention in clinical narcology.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000011789
Author(s):  
Hiroya NISHIDA ◽  
Kuniko KOHYAMA ◽  
Satoko KUMADA ◽  
Jun-ichi TAKANASHI ◽  
Akihisa OKUMURA ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Diagnostic Criteria ◽  
Predictive Value ◽  
False Positive ◽  
Pediatric Population ◽  
True Positive ◽  
Positive Group ◽  
Nmdar Encephalitis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

OBJECTIVE:To evaluate the validity of the 2016 clinical diagnostic criteria proposed for probable anti-NMDA receptor (NMDAR) encephalitis in children, we tested the criteria in a Japanese pediatric cohort.METHODS:We retrospectively reviewed clinical information of patients with neurological symptoms whose CSF were analyzed for NMDAR antibodies (Abs) in our laboratory from January 1, 2015, to March 31, 2019.RESULTS:Overall, 137 cases were included. Of the 41 cases diagnosed as probable anti-NMDAR encephalitis (“criteria-positive”) according to the 2016 criteria, 13 were positive and 28 were negative for anti-NMDAR Abs. Of the 96 criteria-negative cases, three were positive and 93 were negative for anti-NMDAR Abs. The sensitivity of the criteria was 81.2%, specificity was 76.9%, positive predictive value (PPV) was 31.7%, and negative predictive value was 96.9%. Compared with the true-positive group, the false-positive group contained more male than female patients (male:female, 4:9 in the true-positive vs. 19:9 in the false-positive group, p = 0.0425). The majority of the cases with false-positive diagnoses were associated with neurological autoimmunity.CONCLUSION:The clinical diagnostic criteria are reliable for deciding to start immunomodulatory therapy in the criteria-positive cases. Low PPV may be caused by a lower prevalence of NMDAR encephalitis and/or lower level of suspicion for encephalitis in the pediatric population. Physicians should therefore continue differential diagnosis, focusing especially on other forms of encephalitis.Classification of Evidence:This study provides Class IV evidence that the proposed diagnostic criteria for anti-NMDAR encephalitis in children has a sensitivity of 81.2% and a specificity of 76.9%.

Sign in / Sign up

Export Citation Format

Share Document