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  1. Article ; Online: Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.

    Patel, Dhrumil Deveshkumar / Gripp, Karen W / Wadman, Erin / Mishra, Ishita / Kandula, Vinay

    American journal of medical genetics. Part A

    2024  , Page(s) e63593

    Abstract: Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic ... ...

    Abstract Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic pathogenic ZNF335 variants predispose to neuronal cell death and aberrant differentiation, thus causing secondary microcephaly. These neurodevelopmental anomalies lead to imaging findings in the cortex, posterior fossa, and basal ganglia. We report an individual of Nepalese ancestry with a novel homozygous ZNF335 variant (c.3591 + 2dup) (p.?) (NM_022095.3) which on further RNA analysis confirmed a splice site variant in intron 23. The patient presented with primary microcephaly with atrophic cerebral hemispheres, oversimplification of gyri, basal ganglia, and corpus callosal atrophy. Literature review on the topic revealed a spectrum of brain abnormalities, which can present either with a primary or secondary microcephaly depending upon the underlying genetic variant.
    Language English
    Publishing date 2024-03-28
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63593
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: COVID-19 associated Rhino-Orbito-Cerebral Mucormycosis: Imaging spectrum and Clinico-radiological correlation- a single Centre experience.

    Patel, Dhrumil Deveshkumar / Adke, Shrishail / Badhe, Padma V / Lamture, Swastika / Marfatia, Hetal / Mhatre, Pauras

    Clinical imaging

    2021  Volume 82, Page(s) 172–178

    Abstract: Purpose: The study aims to depict the radiological features of Cov-ROCM, depict the common routes of spread to orbits and intracranial compartment and look for an association of the risk factors with radiological severity of the disease.: Methods: 96 ...

    Abstract Purpose: The study aims to depict the radiological features of Cov-ROCM, depict the common routes of spread to orbits and intracranial compartment and look for an association of the risk factors with radiological severity of the disease.
    Methods: 96 patients who had COVID-19 infection in the past 3 months and were diagnosed with ROCM underwent CECT PNS examinations which were assessed by two experienced radiologists. They were divided into three groups based on the intraorbital and intracranial involvement and were correlated with various risk factors.
    Results: The incidence of bony erosions which was the commonest finding (75%) was double in Cov-ROCM than the ROCM cases of pre COVID era (33-40%). The most common route of spread to orbit was through angioinvasion(52%) with intact orbital walls; and intracranial extension was via erosion of the cribriform plate(52%). Sphenoid sinus involvement is strongly associated with intracranial and intraorbital involvement.(p-value = .0004). History of longer ICU stays and being on mechanical ventilation as a part of COVID management is associated with aggressive disease pattern(p-value = .002). Similarly, poor glycaemic control signified by raised HbA1c levels showed statistically significant correlation with severe Cov-ROCM(intraorbital/intracranial extension) (p-value = .040).
    Conclusion: Amidst the COVID pandemic, it is pertinent to look at bony erosions in case of any sinusitis, especially bony maxillary walls and the turbinates. The intraorbital compartment must be viewed thoroughly even in the absence of bony erosions due to the angioinvasive nature of these fungi. Aggressive follow-up for patients with ICU stays for COVID and for glycaemic control would help reduce the morbidity.
    MeSH term(s) COVID-19 ; Humans ; Mucormycosis/diagnostic imaging ; Mucormycosis/epidemiology ; Orbit ; Orbital Diseases/diagnostic imaging ; SARS-CoV-2
    Language English
    Publishing date 2021-11-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1028123-x
    ISSN 1873-4499 ; 0899-7071
    ISSN (online) 1873-4499
    ISSN 0899-7071
    DOI 10.1016/j.clinimag.2021.10.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1469: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Comparison of 4D computed tomography and F-18 fluorocholine PET for localisation of parathyroid lesions in primary hyperparathyroidism: A systematic review and meta-analysis.

    Patel, Dhrumil Deveshkumar / Bhattacharjee, Samiksha / Pandey, Avaneesh Kumar / Kopp, Chirag Rajkumar / Ashwathanarayana, Abhiram G / Patel, Himani Vinayak / Barnabas, Rohit / Bhadada, Sanjay Kumar / Dodamani, Manjunath Havalappa

    Clinical endocrinology

    2023  Volume 99, Issue 3, Page(s) 262–271

    Abstract: Minimally invasive parathyroidectomy (MIP) is the standard of care for primary hyperparathyroidism (PHPT). Four dimensional computed tomography(4DCT) and F-18 Fluorocholine positron emission tomography/computed tomography (FCH PET/CT) localize adenomas ... ...

    Abstract Minimally invasive parathyroidectomy (MIP) is the standard of care for primary hyperparathyroidism (PHPT). Four dimensional computed tomography(4DCT) and F-18 Fluorocholine positron emission tomography/computed tomography (FCH PET/CT) localize adenomas accurately to perform MIP. We aimed to conduct a systematic review and metanalysis to evaluate the diagnostic performance of 4DCT and FCH PET/CT scan for quadrant wise localisation in PHPT patients and to do head-to-head comparison between these two modalities. DESIGN, PATIENTS AND MEASUREMENT : After searching through PubMed and EMBASE databases, 46 studies (using histology as a gold standard) of 4DCT and FCH PET/CT were included. RESULTS: Total number of patients included were 1651 and 952 for 4DCT scan (studies n = 26) and FCH PET/CT scan (studies n = 24) respectively. In per patient analysis, FCH PET/CT and 4DCT had pooled sensitivities of 92% (88-94) and 85% (73-92) respectively and in per lesion analysis, 90% (86-93) and 79% (71-84), respectively. In the subgroup with negative conventional imaging/persistent PHPT, FCH PET/CT had comparable sensitivity to 4DCT (84% [74-90] vs. 72% [46-88]). As per patient wise analysis, FCH PET/CT had better detection rates than 4DCT ([92.4 vs. 76.85], odds ratio -3.89 [1.6-9.36] p = .0024) in the subpopulation where both FCH PET/CT and 4DCT were reported. CONCLUSION: Both 4DCT and FCH PET/CT scan performed well in newly diagnosed patients, patients with persistent disease and in those with inconclusive conventional imaging results. FCH PET/CT scan had a higher pooled sensitivity than 4DCT in detecting patients with PHPT in head to head comparison.
    MeSH term(s) Humans ; Positron Emission Tomography Computed Tomography/methods ; Four-Dimensional Computed Tomography ; Hyperparathyroidism, Primary/diagnostic imaging ; Hyperparathyroidism, Primary/surgery ; Parathyroid Glands ; Choline
    Chemical Substances fluorocholine (6029HGL0QP) ; fluoromethylcholine ; Choline (N91BDP6H0X)
    Language English
    Publishing date 2023-01-08
    Publishing country England
    Document type Meta-Analysis ; Systematic Review ; Journal Article
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14875
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 814: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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