Central European Annals of Clinical Research

We present the case of a child with mild axial hypotonia and episodes of persistent hyponatremia and hyperkalemia early in life, followed by an asymptomatic long period. During the present hospital admission, dysregulation of the adrenal gland function and detection of two missense variants in NR0B1 (nuclear receptor subfamily 0 group B member 1) gene state with high probability the diagnosis of congenital adrenal insufficiency. Management include substitution therapy and food supplementation with salt with good outcome. Full article

Short stature is a common cause for addressing the endocrinologist. Growth hormone deficiency is estimated to occur in 1:4000 to 1:10,000 of small stature cases [¹]. Identifying and treating these children is of high importance given the psycho-social implication of small stature. I present the case of a male teenager ages 15 years 10 months old who responded well to treatment, achieving the target genetic stature. Full article

Prader-Willi syndrome (PWS) is the most common syndromic cause of life-threatening obesity, scoliosis and obstructive sleep apnea (OSA) being the major concerns for these patients. We report the case of a five year-old girl with PWS admitted for growth hormone therapy. Initially she had medium-severe OSA that required tonisllectomy and severe scoliosis. At six months follow-up after intitation of therapy, she had a good response with better height and body fat index, OSA improvement, but progression of the scoliosis severity. With this case report we underline that, while growth hormone therapy in PWS patients is efficient and not directly related to scoliosis and OSA exacerbation, careful monitoring during therapy is recommended. Full article

Background: Postoperative dynamic pain is often associated with increased morbidity and hospital stays. Thoracic epidural analgesia is the gold standard for postoperative pain control in patients with upper abdominal surgeries, providing significant improvements in dynamic pain scores and early mobilisation. The primary objective of this study is to evaluate postoperative static and dynamic pain control with three concentrations of thoracic epidural bupivacaine mixed with a fixed dose of fentanyl infusion in major abdominal surgeries. Method: The patients meeting the inclusion criteria were randomly allocated to three different groups. Thoracic epidural bupivacaine infusions, with concentrations of 0.0625%, 0.1% and 0.125%, mixed with fentanyl 1 μg/mL, were given through a Baxter elastomeric pump at the rate of 5 mL/hour, and labelled as Group A, Group B and Group C, respectively. The patients were followed up to the third postoperative day for the assessment of static pain score, dynamic pain score, respiratory depression, blood pressure, sedation, motor weakness, postoperative nausea and vomiting. Results: Group B and Group C, with bupivacaine concentrations of 0.1% and 0.125%, respectively, had significantly better static and dynamic pain control in comparison to Group A, with a bupivacaine concentration of 0.0625%. Hypotension was significantly higher in Group C than in other groups. The incidence of other side effects, including motor block, pruritus, postoperative nausea and vomiting, were found to be highest in Group C compared to the other groups, though the difference was not significant. Conclusion: We recommend a thoracic epidural infusion with a bupivacaine concentration of 0.1% with 1 µg/mL fentanyl for postoperative pain management in patients undergoing major abdominal surgery. Full article

Accurate prediction of a difficult airway patient remains a challenge among laryngoscopists and anesthesia providers. Despite the lack of sensitivity and specificity of routine preoperative airway tests, many providers still perform them, suggesting they may still guide and influence airway planning. The most commonly used Mallampati exam has a low sensitivity. Our hypothesis was that digital documentation of the airway exam would improve intraobserver reliability between airway exams and provide more consistent information for airway providers. We obtained written informed consent from 250 patients presenting to the UF Health Shands Presurgical Center to participate in an observational cohort study. Their airway exam was photographed and uploaded into the electronic medical record. Data extracted from the electronic medical record were reviewed by three independent investigators. From chi-square analyses, there were significant differences (p < 0.05) in all measures across raters, indicating raters had varied assessments and predictions about patients. There were no statistically significant associations (p > 0.05) between Mallampati scores from the preassessment or reviews of photographs and the method of intubation or laryngoscopic view observed in the patient. There was also no statistically significant association between the Mallampati score and the use of video laryngoscopy for the intubation method. Moderate intraobserver reliability of the Mallampati exam may be a confounding factor regarding the lack of a significant relationship between the Mallampati exam and the assessment of whether a patient may be difficult to intubate, or the method chosen to facilitate intubation in this study. Full article

Diagnosis and following up the dynamics of Pediatric Acute Respiratory Distress Syndrome demand a more feasible, non-invasive and bedside tool, such as lung ultrasound, for monitoring the damaged lungs. We report on a 6-month-old child admitted in our Pediatric Surgical Intensive Care Unit with a clinical presentation of ileus and concomitant community acquired pneumonia. Lung ultrasound (LUS) examinations according to the BLUE Protocol were done several times during the hospital stay. A-lines were seen at admission in the upper segments, but 2–3 B-lines were present in the posterolateral segments bilaterally. Later on, separated and coalescent B-lines were seen. White lung parenchyma or milky lungs with a thickened pleural line were seen, while the worst gas exchange according to the results of Arterial Blood Gases (ABGs) has been detected. According to the findings, as many B-lines will be detected, as the severeness of lung damage and gas exchange impairement. The improvement of the gas exchange with the disappearance of the coalescent B-lines was seen later on, after ventilating the child in a prone position. Bedsides, LUS is a feasible and non-invasive point of care method that could be used for diagnosing Pediatric Acute Respiratory Distress Syndrome (PARDS) but in guiding therapy of the damaged lungs, also. The finding of diffuse, coalescent and homogenous B-lines interpreted as “Milky lungs” is consistent with the diagnosis of PARDS. Full article

(1) Background: Coronavirus disease 2019 (COVID-19) is associated with the development of Acute COVID-19 Cardiovascular Syndrome (ACovCS) in critically ill patients. In this case series, we evaluated the incidence of ACovCS by ultrasound in critically COVID-19 ill patients. (2) Methods: This case series included all patients with confirmed COVID-19 requiring admission to the ICU at Monaldi Hospital (AORN Ospedale dei Colli, Naples), between March 14th, 2020, and May 1st, 2020. On admission, in stable clinical conditions, an experienced and certified intensivist performed Point-Of-Care Cardiac Ultrasound (POC-CU). The exam was performed daily in every patient and repeated according to clinical evolution and intensivist’s judgment during the length of stay. Ex-Novo ACovCS echocardiographic patterns were noted. (3) Results: POC-CU evaluation performed on 19 patients revealed that, on admission, five patients (26.3%) presented an echocardiographic pattern like cor pulmonale. During the length of stay, seven patients (36.8%) presented ex-Novo echocardiographic alterations, suggesting ACovCS. Pericardial effusion (26.3%), acute right impairment due to pulmonary embolism (5.3%) and acute left impairment by wall motion alteration (5.3%) were the most common findings. (4) Conclusions: Ex-Novo cardiac abnormalities shown by POC-CU were common in patients with severe COVID-19. Competence in POC-CU is essential in identifying ACovCS in COVID-ICU and clinical decision-making. Full article

In polytrauma cases with thoracic injury and long-term chest tube drain, there is a risk of pulmonary arteriovenous fistula formation, which mostly remains undiagnosed. The pulmonary arteriovenous fistulas lead to the right to left shunt and could be a potential source of systemic septic embolism. Here, we describe a recovering polytrauma patient, who spontaneously developed septic embolic encephalitis and endogenous endophthalmitis, with no evident source of septic systemic embolism. We suspect the pulmonary arteriovenous fistulas due to thoracic injury or chest tube drain could be the possible source of septic systemic embolism, which needs to be evaluated in such cases after excluding common causes. Full article

Vitamin D, called “the sunshine vitamin” is essential for the good functioning of the human body. Vitamin D generates its principal effects via the vitamin D receptor (VDR), a specific zinc-finger nuclear receptor, located primarily in the nuclei of target cells. VDR is present in most tissues and cells in the body such as in the: digestive system, cardiovascular system, immune system. This receptor represents the key to the understanding of vitamin D non-skeletal effects. Recently, some data were published on the correlation between vitamin D levels and sepsis, indicating a prevalence of vitamin D deficiency of approximately 61.6% in sepsis patients and of 74% in patients admitted to intensive care units (ICU). Vitamin D deficiency in critically ill patients is associated with infection and sepsis, and this association is based on the relation between vitamin D and inflammatory cytokine. Vitamin D, via VDR influences the secretion of cytokines and antimicrobial peptides. Practically, vitamin D acts as an immunomodulator stimulating the differentiation of cells of the innate immune system and, regulating T and B cell proliferation. The data clearly show predominant effects of vitamin D on the adaptive immune function. Vitamin D modulates the T cell phenotype specially that of CD4⁺ helper T cells (Th₁, Th₂, as well as Th17 sub-grups). The amplitude of the response to vitamin D depends on a cell’s state of activation, as the number of VDR in inactive cells is low, but may increase five times after activation It was found that the intestinal expression of VDR regulates the host’s microbiome and mediates the anti-inflammatory effects of probiotics. A low level of vitamin D in ICU patients is demonstrated and has many causes. The rapid correction of this deficiency by administering very high doses of vitamin D is possible without causing adverse effects like hypercalcemia or hypercalciuria. Vitamin D is more than just a vitamin. It has clear effects on the immune system, in particular in patients with autoimmune diseases and critically ill. Currently, the majority of data strongly support the association, between low vitamin D levels and sepsis rather than a causal relation. Vitamin D is emerging as a promising and relatively safe nutrient for developing new preventive strategies and adjuvant treatments of diseases, caused by impaired immune-homeostasis. In addition, its supplmentation is very easy and safe. Full article