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Volume 3, September

Reports, Volume 3, Issue 4 (December 2020) – 10 articles

Cover Story (view full-size image): 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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Open AccessArticle
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
Reports 2020, 3(4), 36; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040036 - 13 Dec 2020
Viewed by 466
Abstract
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 gestational age. We examined [...] Read more.
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 gestational age. We examined the association of birth weight and PI, with body mass index (BMI) and obesity status in adulthood, in a cohort of offspring of women with pre-gestational diabetes. The women participated in the Diabetes in Pregnancy (DiP) study at the University of Cincinnati from 1978 to 1995. The offspring of these women are the cohort participating in an observational study being conducted at Cincinnati Children’s Hospital Medical Center. Once located, the offspring were invited to come in for a one-day clinic visit to assess anthropometrics, and their metabolic, renal and cardiovascular status. Linear and logistic regression was used to assess the association between birth weight and PI with current BMI. We report on 107 offspring. A statistically significant association was found between offspring current BMI with birth PI (β = 1.89, 95% CI 0.40–3.38), and between offspring current obesity status and birth asymmetric LGA (aOR = 2.44, 95% CI 1.01–5.82). This is consistent with in utero “metabolic programming”. Full article
(This article belongs to the Special Issue Childhood Obesity: New Knowledge, Cases and Interventions)
Open AccessArticle
Parent Perspectives on Implementing Health Behavior Recommendations for Their Infants
Reports 2020, 3(4), 35; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040035 - 10 Dec 2020
Viewed by 332
Abstract
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 impact of health behavior decisions for their child and [...] Read more.
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 impact of health behavior decisions for their child and to understand factors associated with child-specific health behavior decisions. This pilot study included interviews with 25 parents of 9–24-month-old children attending well child care visits at a primary care practice. Questions assessed parental perceptions and attitudes in making health behavior changes now for their child’s future health. Themes suggest parents perceive many factors are involved, and intricately connected, in health behavior decision-making. Although almost all parents believed there is a connection between the foods they feed their child and achieving their goals, only half are willing to make a change. In addition, parents failed to consider the impact of the health practices they currently have with their children to influence the future acquisition of life skills and of healthy versus obesogenic behaviors. Our results add to the understanding of the process of health behavior change through anticipatory guidance. Study findings will be used to guide next steps towards refining our understanding of health and lifestyle change decisions made by parents. Full article
(This article belongs to the Special Issue Childhood Obesity: New Knowledge, Cases and Interventions)
Open AccessCase Report
Pharyngo-Cervico-Brachial Variant of Guillain-Barré or Miller Fisher Syndromes? When the Overlap Is Misleading
Reports 2020, 3(4), 34; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040034 - 24 Nov 2020
Viewed by 442
Abstract
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. However, other neurological signs and symptoms may also [...] Read more.
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. However, other neurological signs and symptoms may also be present. Supportive laboratory studies (positivity of antibodies, CSF albumin-cytological dissociation and nerve conduction studies) are useful especially in uncommon presentations. We report a case of a 74-year-old patient who exhibited dysphonia and difficulty to swallowing previously to the classic triad of ataxia, areflexia, and opthalmoplegia, characteristic of MFS. CSF analysis demonstrates an albumin-cytological dissociation. Anti-GTa1 antibodies were found but anti-GQ1b antibodies were negative. The patient has spontaneously and completely recovered after 6 weeks. Full article
Open AccessCase Report
Transformation or Progression from Adenocarcinoma to Small Cell Lung Cancer Detected by Serially Tracking Mutations in the Blood
Reports 2020, 3(4), 33; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040033 - 04 Nov 2020
Viewed by 584
Abstract
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 present the case of a 74-year-old female who [...] Read more.
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 present the case of a 74-year-old female who was treated with EGFR inhibitors for NSCLC which later transformed to SCLC. The kinetics of ctDNA was monitored by measuring the EGFR Exon 19 mutant L747–A750 > P and PIK3CA E545K over the course of therapy. Stabilisation of the PIK3CA mutation was found in response to therapy, however there appeared to be increasing levels of the EGFR mutant, potentially reflective of untreated EGFR-driven disease. Conclusion: The key finding described here, revealed by mutational tracking of mutations from the blood, is that clinically actionable mutations are assessable and may demonstrate clinical utility in measuring disease burden, multiple clones and progression non-invasively for lung cancer. Full article
(This article belongs to the Special Issue Case Reports in Oncology)
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Open AccessArticle
Body Composition versus BMI as Measures of Success in a Clinical Pediatric Weight Management Program
Reports 2020, 3(4), 32; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040032 - 20 Oct 2020
Viewed by 533
Abstract
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 always the best measure of success in [...] Read more.
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 always the best measure of success in treating patients in a pediatric weight management program. Our retrospective study evaluated the proportion of patients that achieved favorable changes in body composition by bioelectrical impedance analysis in the absence of improvements in BMI, BMI percentile, or percent of the 95th percentile for BMI. It was found that 30% of patients whose BMI increased by 1.0 kg/m2 or more, 31.6% of patients with stable or increasing BMI percentiles, and 28% with stable or increasing percent of the 95th percentile for BMI demonstrated an improvement in body composition (skeletal muscle mass and body fat percentage). Body composition is an important measure of success for a subset of patients who otherwise may believe that their efforts in lifestyle change have not been effective. Our results suggest that including body fat percentage as a measure of success in evaluating the progress of patients participating in a pediatric weight management program is appropriate and may more accurately track success than change in BMI or BMI percentile alone. Full article
(This article belongs to the Special Issue Childhood Obesity: New Knowledge, Cases and Interventions)
Open AccessCase Report
Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report
Reports 2020, 3(4), 31; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040031 - 18 Oct 2020
Viewed by 656
Abstract
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 the cytosol to the mitochondrial inner membrane, where fatty acid β-oxidation takes [...] Read more.
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 the cytosol to the mitochondrial inner membrane, where fatty acid β-oxidation takes place. Here, we present an interesting clinical case of an adolescent male that presented with psychosis and a history of mild-to-moderate CPT II deficiency. To identify germline genetic variation that may contribute to the phenotypes observed, we performed whole-exome sequencing on DNA from the proband, unaffected fraternal twin, and biological parents. The proband was identified to be homozygous for the p.Val368Ile and heterozygous for the p.Met647Val variant in CPT2. Each of these variants are benign on their own; however, their combined effect is unclear. Further, variation was identified in the dopamine β-hydroxylase (DBH) gene (c.339+2T>C), which may contribute to decreased activity of DBH; however, based on the patient’s presentation, severe DBH deficiency is unlikely. In conclusion, the variants identified in this study do not clearly explain the observed patient phenotypes, indicating that the complex phenotypes are likely caused by an interplay of genetic and environmental factors that warrant further investigation. Full article
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Open AccessArticle
Expression of Hypoxia-Inducible Factors in Different Stages of Pancreatic Tumor Progression
Reports 2020, 3(4), 30; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040030 - 15 Oct 2020
Viewed by 537
Abstract
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: We assessed the expression of hypoxia-inducible factors (HIF-1α [...] Read more.
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: We assessed the expression of hypoxia-inducible factors (HIF-1α and HIF-2α) by immuno-histochemical staining from 29 subjects with the following: pancreatic intraepithelial neoplasia (PanIN), intraductal papillary mucinous neoplasm (IPMN), neuroendocrine tumor (NET), and pancreatic ductal adenocarcinoma (PDAC) and compared it to the expression in non-tumor samples. Results: Expression of HIF-1α increased significantly from PanIN (3.01 ± 0.17) to IPMN (7.63 ± 0.18), NET (9.10 ± 0.23) and PDAC samples (11.06 ± 0.15, p < 0.0001). Similar findings were observed for HIF-2α (p < 0.0001)}. A strong correlation between HIF-1α and HIF-2α expression was demonstrated (R2 = 0.8408, p < 0.0001). Conclusions: This data suggest that HIF-1α and HIF-2α may play a role in the progression from PanIN through PDAC. Further studies are necessary to confirm these findings and determine the effect of HIFs abrogation on tumor progression that can lead to novel therapies. Full article
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Open AccessCase Report
Successful Treatment of a COVID-19 Case with Pneumonia and Renal Injury Using Tocilizumab
Reports 2020, 3(4), 29; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040029 - 13 Oct 2020
Viewed by 616
Abstract
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 positive for severe acute respiratory syndrome [...] Read more.
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 positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) nucleic acid. The patient is a smoker who was on medication for hypertension. A chest computed tomography scan showed bilateral multiple patchy ground-glass opacities. Despite being treated with several therapeutic agents, he still exhibited dyspnea (oxygen saturation [SpO2] in ambient air: 88%), a high fever (axillary temperature: 39 °C), and high blood pressure (148/98 mmHg). Because laboratory data revealed high levels of C-reactive protein (CRP; 2.10 mg/dL) and urinary β2-microglobulin (B2M; 33,683 µg/mL), the anti-interleukin-6 receptor antibody tocilizumab (TCZ; 400 mg) was administered intravenously. One day after injection, he was afebrile. Four days after the TCZ injection, his CRP level dropped to 0.27 mg/dL, B2M level decreased to 3817 µg/mL, and viral load became low. No adverse drug reaction due to TCZ was observed. The patient was discharged 15 days after admission. The early administration of TCZ in this patient prevented the pneumonia and kidney injury caused by COVID-19 from progressing to hyperinflammation syndrome. Full article
(This article belongs to the Special Issue Case Reports in Infectious Diseases 2020)
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Open AccessCase Report
Observations on Four Cases of Brooke–Spiegler Syndrome
Reports 2020, 3(4), 28; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040028 - 30 Sep 2020
Viewed by 622
Abstract
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, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of [...] Read more.
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, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease. Full article
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Open AccessCase Report
Concurrent Hip Pain and Skull Lump as the First Manifestations of a Silent Follicular Thyroid Carcinoma
Reports 2020, 3(4), 27; https://0-doi-org.brum.beds.ac.uk/10.3390/reports3040027 - 23 Sep 2020
Cited by 1 | Viewed by 640
Abstract
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 primary cancer. Occult skull metastasis as the [...] Read more.
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 primary cancer. Occult skull metastasis as the first presentation at diagnosis from follicular thyroid cancer is relatively rare. A 51-year-old woman presented with intermittent pain in her right hip that was treated due to the intensely progressed pain, motor weakness, and difficulty walking. The patient was then referred due to swelling in the forehead. Further evaluation revealed that the frontal swelling and the pathological femoral fractures were manifestations of distant metastases from follicular thyroid cancer. In the presence of swelling in the skull, the metastatic lesion should be considered as a differential diagnosis from a silent primary cancer. This report will be beneficial for general practitioners, surgeons, and internists to recognize unusual distant metastatic manifestations from silent differentiated thyroid cancer. Full article
(This article belongs to the Special Issue Case Reports in Oncology)
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