scholarly journals Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Scarano Valentina ◽  
De Santis Daniele ◽  
Suppressa Patrizia ◽  
Lastella Patrizia ◽  
Lenato Gennaro Mariano ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Ischaemic Stroke ◽  
Clinical Diagnosis ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Hypogonadotropic Hypogonadism ◽  
Lower Limbs ◽  
Definite Diagnosis ◽  
Clinical Criteria ◽  
Postphlebitic Syndrome ◽  
Males And Females

A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagnosis of Kallmann syndrome, that is, an association, possible in males and females, of hypogonadotropic hypogonadism with olfactory deficits. A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis.

scholarly journals Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1

2018 ◽  
Vol 178 (2) ◽  
pp. K1-K9 ◽  
Author(s):  
Laura Gieldon ◽  
Jimmy Rusdian Masjkur ◽  
Susan Richter ◽  
Roland Därr ◽  
Marcos Lahera ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Next Generation ◽  
Medullary Thyroid

Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. We did not exclude genes known to cause clinically defined syndromes such as NF1 based on missing phenotypic expression as is commonly practiced. Methods Genetic analysis was performed using NGS (TruSight Cancer Panel/customized panel by Illumina) for analyzing patients’ blood and tumor samples. Validation was carried out by Sanger sequencing. Results Within our cohort, three patients, who were identified to carry pathogenic NF1 germline mutations, attracted attention, since none of the patients had a clinical suspicion of NF1 and one of them was initially suspected to have MEN2A syndrome due to co-occurrence of a medullary thyroid carcinoma. In these cases, one splice site, one stop and one frameshift mutation in NF1 were identified. Conclusions Since phenotypical presentation of NF1 is highly variable, we suggest analysis of the NF1 gene also in PPGL patients who do not meet diagnostic NF1 criteria. Co-occurrence of medullary thyroid carcinoma and PPGL was found to be a clinical decoy in NF1 diagnostics. These observations underline the value of multi-gene panel NGS for PPGL patients.

scholarly journals Genetic Analysis of Field Trials of Sex-linked Translocation Strains for Genetic Control of the Australian Sheep Blowfly Lucilia cuprina (Wiedemann)

1985 ◽  
Vol 38 (3) ◽  
pp. 275 ◽  
Author(s):  
GG Foster ◽  
WG Vogt ◽  
TL Woodburn
Keyword(s):  
Genetic Analysis ◽  
Genetic Control ◽  
Poor Performance ◽  
Field Trials ◽  
Lucilia Cuprina ◽  
Native Population ◽  
Australian Sheep ◽  
Males And Females ◽  
Progeny Tests ◽  
Release Method

The results of progeny tests of males and females captured during two field trials of sex-linked translocation strains for genetic control of L. cuprina are presented. Males released as mature larvae survived to adulthood and mated with field females. However, the levels of genetic death introduced into the population were insufficient to suppress the native population. This was due partly to seasonal ineffectiveness of the release method, and partly to poor performance of the released males. On average, the mating competitiveness of the released males was only one-third that of field males, whereas their field-reared, translocation-bearing sons were fully competitive with native males.

scholarly journals Neonatal Sepsis: A Profile of a Changing Spectrum

2015 ◽  
Vol 34 (3) ◽  
pp. 207-214
Author(s):  
K Venkatnarayan ◽  
PK Bej ◽  
RK Thapar
Keyword(s):  
Risk Factors ◽  
Staphylococcus Aureus ◽  
Clinical Diagnosis ◽  
Neonatal Sepsis ◽  
Predictive Value ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Clinical Criteria ◽  
Common Organism ◽  
Sepsis Screen

Introduction: The clinical features of neonatal sepsis are protean and are based on variety of clinical, demographic and laboratory profile of suspected cases. Objectives: To describe the aforementioned profiles in neonates presenting with clinically suspected sepsis based on pre-defined clinical criteria. Material and Methods: Design: Cross-Sectional Study; Setting: Level-2 NICU, Tertiary Care Hospital; Duration: Jan 2011 to Jul 2012. Subjects: 50 consecutive neonates presenting with any of the predefined clinical criteria were assessed for presence of maternal risk factors and studied with respect to: Gestational age, sepsis screen, clinical profile and antibiotic sensitivity of the organisms cultured. Results: Out of the fifty neonates, 38 (76%) were early onset sepsis. The sepsis screen showed an overall sensitivity of 73%, specificity of 54%; with a positive predictive value of 41% and a negative predictive value of 83%. The most common organism cultured was Staphylococcus aureus followed by E Coli, Pseudomonas, Coagulase Negative Staphylococcus and Group B Streptococcus. Ampicillin and Amikacin fared better than Cefotaxime and Gentamicin for Gram positive and Gram negative organisms, respectively. Overall, 37 babies responded to first line antibiotics and 11 required a change of antibiotics. One required addition of inotropes and two of the neonates died. Conclusion: A clinical diagnosis of sepsis based on predefined clinical criteria along with maternal risk factors, over- treated 27 babies (71%) with EONS and 8 babies (66.6%) with LONS. However, such a clinical diagnosis was supported by a septic screen almost twice as frequently (50% Vs 26.3%) in LONS. Staphylococcus aureus was the most common organism isolated. J Nepal Paediatr Soc 2014;34(3):207-214 DOI: http://dx.doi.org/10.3126/jnps.v34i3.11236  

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

2021 ◽  
Vol 14 (6) ◽  
pp. e243415
Author(s):  
Phudit Jatavan ◽  
Theera Tongsong ◽  
Kuntharee Traisrisilp
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Clinical Findings ◽  
Serum Biomarkers ◽  
Provisional Diagnosis ◽  
Unique Case ◽  
Clinical Criteria ◽  
Placental Mesenchymal Dysplasia

We describe a unique case of Beckwith-Wiedemann syndrome (BWS). A 29-year-old woman with ultrasound and clinical findings, specific to BWS is described. Important insights gained from this study are as follows: (1) quad test may be very useful to increase awareness of BWS. This is the first report, which demonstrated that elevated inhibin-A is related to BWS. Unexplained elevation of serum biomarkers, especially all the four markers, should raise awareness of BWS. (2) Early provisional diagnosis in this case was based on the findings of omphalocele, placental mesenchymal dysplasia and abnormal quad test. (3) Follow-up scans are important for late-occurring supportive findings, such as macroglossia, ear abnormalities and visceromegaly. (4) BWS is strongly associated with preeclampsia, which tended to be more severe and of earlier-onset. (5) Molecular genetic analysis is helpful, but not always necessary in cases of fulfilment of clinical criteria like in this case.

Taakspecifieke focale dystonie bij musici

2021 ◽  
Author(s):  
T. DOOMS
Keyword(s):  
Movement Disorder ◽  
Clinical Diagnosis ◽  
Clinical Picture ◽  
Specific Activity ◽  
Muscle Contractions ◽  
Focal Dystonia ◽  
Lower Limbs ◽  
Musical Activity ◽  
Neurological Movement Disorder ◽  
Rule Out

Task-specific focal dystonia in musicians Task-specific focal dystonia is a neurological movement disorder characterized by involuntary contractions during a specific activity. In musicians, the abnormal movement can occur while playing an instrument or while singing. The muscle contractions are usually painless, but the function of the affected region is disturbed. The clinical picture occurs more in men than in women and is most frequent in pianists or guitarists. The abnormality is usually localized in the fingers, the hands or the entire arm. Drummers can have problems in the lower limbs. Brass and woodwind players can lose control of the lips, tongue or facial muscles. This is called “embouchure dystonia”. Singers suffer from the larynx. The diagnosis is a clinical diagnosis. It is important to observe the musician making music. Outside the musical activity, all tests are normal. Technical examinations can be useful to rule out other diagnoses. The therapy is difficult and often unsatisfactory. In many cases, the disease predicts the end of the musical career.

Cognitive Functions in the Geriatric Population

2021 ◽  
pp. 123-146
Author(s):  
Shivani Sharma ◽  
Ashima Nehra
Keyword(s):  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Clinical Diagnosis ◽  
Predictive Validity ◽  
Cognitive Deficits ◽  
Cognitive Functions ◽  
Diagnostic Challenge ◽  
Geriatric Population ◽  
Clinical Criteria ◽  
Cognitive States

This chapter describes how one of the challenging issues of clinical diagnosis is distinguishing between the cognitive deficits manifested in normal aging, depression, mild cognitive impairment (MCI) and dementia. The diagnostic challenge is that there is a great deal of overlap in the symptom constellations of these conditions. It is thus important to establish conceptual and clinical criteria with sufficient predictive validity to accurately identify differences and similarities in cognitive states to justify initiation of appropriate treatments.

Memory During the Presumed Vegetative State: Implications for Patient Quality of Life

2020 ◽  
Vol 29 (4) ◽  
pp. 501-510
Author(s):  
NICOLA TAYLOR ◽  
MACKENZIE GRAHAM ◽  
MARK DELARGY ◽  
LORINA NACI
Keyword(s):  
Quality Of Life ◽  
Clinical Diagnosis ◽  
Life Experiences ◽  
Vegetative State ◽  
Significant Proportion ◽  
Standard Of Care ◽  
Mental Life ◽  
Successful Performance ◽  
Clinical Criteria

AbstractA growing number of studies show that a significant proportion of patients, who meet the clinical criteria for the diagnosis of the vegetative state (VS), demonstrate evidence of covert awareness through successful performance of neuroimaging tasks. Despite these important advances, the day-to-day life experiences of any such patient remain unknown. This presents a major challenge for optimizing the patient’s standard of care and quality of life (QoL). We describe a patient who, following emergence from a state of complete behavioral unresponsiveness and a clinical diagnosis of VS, reported rich memories of his experience during this time. This case demonstrates the potential for a sophisticated mental life enabled by preserved memory in a proportion of patients who, similarly, are thought to be unconscious. Therefore, it presents an important opportunity to examine the implications for patient QoL and standard of care, both during the period of presumed unconsciousness and after recovery.

Vascular Dementia: A Diagnostic Challenge

2003 ◽  
Vol 15 (S1) ◽  
pp. 111-114 ◽  
Author(s):  
Gabriel Gold
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Vascular Dementia ◽  
Clinical Diagnosis ◽  
Clinical Studies ◽  
Mixed Dementia ◽  
Diagnostic Challenge ◽  
Clinical Criteria ◽  
Clinicopathological Correlations ◽  
Broad Consensus

Although vascular dementia was described over a century ago, it remains a difficult and challenging diagnosis. Several sets of clinical criteria have been published in an effort to establish the presence or absence of vascular dementia in a standardized fashion. Clinical studies have demonstrated that they identify different groups of patients and are thus not interchangeable. Retrospective clinicopathological correlations have shown that most are insufficiently sensitive, although they are generally relatively specific. They accurately exclude pure Alzheimer's disease but may include 9% to 39% of mixed dementia cases (Alzheimer's disease and vascular dementia combined). Further studies are needed to develop better performing criteria that could lead to a broad consensus on the clinical diagnosis of vascular and mixed dementia.

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