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Reports, Volume 3, Issue 4

December 2020 - 10 articles

Cover Story: We report a male with a history of carnitine palmitoyltransferase (CPT) II deficiency and adolescent schizophrenic symptoms. Whole-exome sequencing was performed on the proband, fraternal twin sister, and biological parents to identify potentially causative variants. Although benign on their own, three variants identified in CPT2, and additional variants identified in dopamine-β-hydroxylase (DBH), may be responsible for the complex presentation of symptoms. It remains a question if early metabolic deficiencies can predispose an individual to developing schizophrenia. View this paper
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Articles (10)

  • Article
  • Open Access
1 Citations
2,820 Views
10 Pages

Does Birthweight Represent Imprinting for Life? Preliminary Findings from the Level and Timing of Diabetic Hyperglycemia in Utero: Transgenerational Effect on Adult Morbidity (TEAM) Study

  • Jane C. Khoury,
  • Mekibib Altaye,
  • Shelley Ehrlich,
  • Suzanne Summer,
  • Nicholas J. Ollberding,
  • Rhonda Szczesniak,
  • Resmi Gupta,
  • Patrick Catalano and
  • Katherine Bowers

13 December 2020

Women with pre-gestational diabetes have a high rate of large for gestational age (LGA) babies compared to women without diabetes. In particular, there is a high rate of asymmetric LGA defined as ponderal index (PI) > 90th percentile for gestation...

  • Article
  • Open Access
1 Citations
3,421 Views
11 Pages

Parent Perspectives on Implementing Health Behavior Recommendations for Their Infants

  • Katherine P. Nickele,
  • Liliana Bolanos,
  • Punreet K. Bhatti,
  • Karen Williams,
  • Maryann Mason and
  • Adolfo J. Ariza

10 December 2020

Little is known about the influence of parental values, preferences, and child achievement and health expectations on parent choices for their child’s rearing practices. We aimed to explore parents’ perceptions of immediate and future imp...

  • Case Report
  • Open Access
4,550 Views
5 Pages

Pharyngo-Cervico-Brachial Variant of Guillain-Barré or Miller Fisher Syndromes? When the Overlap Is Misleading

  • Leila Tamaoui,
  • Mounia Rahmani,
  • Hajar Touati,
  • Leila Errguig,
  • Maria Benabdeljlil and
  • Saadia Aidi

24 November 2020

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS). It is largely a clinical diagnosis based on the classical features of ataxia, areflexia, and opthalmoplegia. Its clinical evolution is most often favorable. Howev...

  • Case Report
  • Open Access
3,263 Views
3 Pages

Transformation or Progression from Adenocarcinoma to Small Cell Lung Cancer Detected by Serially Tracking Mutations in the Blood

  • Arutha Kulasinghe,
  • James Monkman,
  • Mark Nalder,
  • Connor O’Leary,
  • Rahul Ladwa and
  • Ken O’Byrne

4 November 2020

Background: Circulating tumour DNA (ctDNA) has emerged as a promising biomarker for monitoring non-small-cell lung cancer (NSCLC). This has enabled the monitoring of clinically actionable mutations over the course of therapy. Case presentation: We pr...

  • Article
  • Open Access
3 Citations
3,688 Views
7 Pages

20 October 2020

The high rates and long-term medical consequences of childhood obesity make it a public health crisis requiring effective diagnosis, treatment, and prevention. Although BMI is an adequate screening tool for obesity, monitoring BMI change is not alway...

  • Case Report
  • Open Access
1 Citations
6,273 Views
11 Pages

Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report

  • Rochelle N. Wickramasekara,
  • Pashayar P. Lookian,
  • Jeannie Ngo,
  • Annemarie Shibata and
  • Holly A. F. Stessman

18 October 2020

Schizophrenia is a multifaceted mental illness characterized by cognitive and neurobehavioral abnormalities. Carnitine palmitoyltransferase II (CPT II) deficiency is a metabolic disorder resulting in impaired transport of long-chain fatty acids from...

  • Article
  • Open Access
5 Citations
3,921 Views
11 Pages

Expression of Hypoxia-Inducible Factors in Different Stages of Pancreatic Tumor Progression

  • Jung Hwa Jung,
  • Danuta Sosnowska,
  • Jessica Weaver,
  • Henri K. Parson,
  • Carolina M. Casellini and
  • Aaron I. Vinik

15 October 2020

Background: Early diagnosis in pancreatic cancer is key for improving prognosis. Hypoxia plays a critical role in tumor progression. Thus, an evaluation of associations between pancreatic tumor progression and markers of hypoxia is needed. Methods: W...

  • Case Report
  • Open Access
7 Citations
3,795 Views
8 Pages

Successful Treatment of a COVID-19 Case with Pneumonia and Renal Injury Using Tocilizumab

  • Yugo Ashino,
  • Haorile Chagan-Yasutan,
  • Masumitsu Hatta,
  • Yoichi Shirato,
  • Yorihiko Kyogoku,
  • Hanae Komuro and
  • Toshio Hattori

13 October 2020

A 49-year-old male Japanese patient was admitted to our hospital under the diagnosis of COVID-19 pneumonia. For 5 days before admission, he had experienced various symptoms, including high fever, watery diarrhea, dyspnea, and cough, and he tested pos...

  • Case Report
  • Open Access
3 Citations
8,960 Views
10 Pages

Observations on Four Cases of Brooke–Spiegler Syndrome

  • Mihaela Leventer,
  • Casandra Coltoiu,
  • Alexandra Zota,
  • Tiberiu Tebeica,
  • Carmen Lisievici and
  • Alina Martinescu

30 September 2020

Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, mos...

  • Case Report
  • Open Access
1 Citations
8,244 Views
6 Pages

Concurrent Hip Pain and Skull Lump as the First Manifestations of a Silent Follicular Thyroid Carcinoma

  • Kunta Setiaji,
  • Widya Surya Avanti,
  • Hanggoro Tri Rinonce and
  • Sumadi Lukman Anwar

23 September 2020

Follicular thyroid carcinoma is a slowly growing cancer with a generally good long-term prognosis. Distant metastasis from follicular thyroid cancer usually occurs in the lung and bones following a long period after diagnosis and treatment for primar...

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Reports - ISSN 2571-841X