Fetal acrania diagnosed at 17 weeks of gestation by 2D∕3D ultrasound: a case report and literature review.

Acrania is a fetal malformation characterized by complete or partial absence of the calvaria above the orbits and supraciliary ridge. No exact mechanism is demonstrated for this anomaly but disturbances in mesenchymal migration during the fourth week of development are the most documented. The key sonographic features of acrania are absent calvaria and dorsally bulging brain (Mickey Mouse head). Due to the normal process of ossification of cranial bones, the diagnosis can be established only after 11 weeks of gestation. Early detection is extremely important. The prognosis is extremely poor so elective termination of pregnancy is the treatment of choice. In this paper, we discuss the things we know about pathogeny and ultrasonographic features of fetal cranial malformations based on a case diagnosed late during gestation.

The Association of Telangiectasias with Other Peripheral Vascular Lesions of Systemic Sclerosis.

Purpose: Systemic sclerosis (SSc) is a relatively rare collagenosis manifested as microvasculopathy, excessive cutaneous and visceral fibrosis in a background of autoimmune alteration. Autoimmune vasculopathy in SSc occurs early and begins with endothelial cell activation followed by blood vessel intimal proliferation in a context of defective angiogenesis. The alteration of peripheral micro and macrocirculation in SSc is evident through vascular lesions, such as Raynaud's phenomenon, telangiectasias, acrocyanosis, digital ulcers, gangrene, peripheral pulse deficiency. Our paper details the results of the study on the association between telangiectasias and other types of immune-mediated peripheral vascular lesions that can be identified in SSc. The presence of these peripheral vascular lesions can provide information about the magnitude of the peripheral vasculopathy. Patients and Methods: A total of 37 patients diagnosed with SSc, recruited from a university clinic in Bucharest between February 2019 and March 2020, were enrolled in an observational study. We evaluated the presence of telangiectasias, as a stigma of autoimmune microvasculopathy, and their association with other immune-mediated peripheral vascular lesions that may be present in SSc. Results: The presence of telangiectasias was identified in the absence, but especially in the presence of acrocyanosis and digital ulcerations, and patients with peripheral pulse deficiency almost always had telangiectasias. Less than a quarter of the patients with digital ulcers progressed unfavorably to gangrene, and only one required amputation, telangiectasias being present not only in the patient with amputation but in all patients with gangrene. Conclusion: We appreciate that telangiectasias may be the clinical expression of peripheral vasculopathy characteristic of SSc, they can often be present in association with other peripheral vascular lesions and may represent a valuable indicator for the gangrene risk of digital ulcerations in SSc.

Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.

INTRODUCTION: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. CASE REPORT: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. CONCLUSIONS: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.

The Contribution of Procalcitonin, C-Reactive Protein and Interleukin-6 in the Diagnosis and Prognosis of Surgical Sepsis: An Observational and Statistical Study.

Background: Sepsis affects over 30 million people worldwide each year, causing approximately 6 million deaths. Challenges in clinical diagnosis and the need for an early diagnosis to prevent mortality due to sepsis have led to dependence on inflammatory biomarkers like Procalcitonin (PCT), C-reactive protein (CRP), and Interleukin-6 (IL-6). Objective: This study was performed to observe the contribution of inflammatory biomarkers in the diagnosis and prognosis of patients with surgical sepsis. Methods: We performed a retrospective observational study in a Clinical Emergency Hospital, which included a number of 125 patients with surgical sepsis admitted between January 2020 and December 2021. The patients were included in the study based on the Sepsis-3 definition. PCT, CRP, IL-6, Sepsis-related Organ Failure Assessment (SOFA) score, Charlson Comorbidity Index (CCI), the time up to surgery, the days of treatment in Intensive Care Unit (ICU) and the total days of hospitalization had been statistically analyzed. Results: The mean age of all patients was 65.14 years. The mean value in all patients for PCT was 20.08 ng/mL, for CRP was 175.42 mg/l, and for IL-6 was 799.6 pg/mL. The strongest correlation between biomarkers was between CRP and IL-6 (r = 0.425; p < 0.0001). Of all biomarkers, the CRP correlated the strongest with patient outcomes (r = 0.544; p < 0.0001). The area under curve (AUC) for the mean values of the inflammatory biomarkers was calculated and the best diagnostic performance was for CRP with 0.816 (95% CI: 0.744-0.887). Conclusion: CRP and IL-6 were the most efficient in sepsis diagnosis. The association of PCT, CRP and IL-6 has increased the range of certainty in sepsis diagnosis. CRP was the most efficient biomarker in the prognosis of sepsis.

Correlation Between Serum Procalcitonin Levels and 28-Day Mortality in Patients with Surgical Sepsis and Septic Shock.

Background: Sepsis is a major medical emergency accounting for approximately 48.9 million cases and 11 million deaths worldwide, representing 19.7% of all global deaths. This study was conducted to evaluate the correlation between procalcitonin values and 28-day mortality. Methods: A retrospective study was conducted that included patients with sepsis and septic shock, treated in the surgical departments of the Sf. Apostol Andrei Galati County Emergency Clinical Hospital between January 2020 and December 2021. Results: 125 patients (mean age 65 years), mostly men (56%, n=70) were included. The mean procalcitonin value at admission in the sepsis group (28%, n=35) was 5.98 ng/mL, and in the septic shock group (72%, n=90) was 40.09 ng/mL. The most significant correlation was between procalcitonin at discharge, 28-day mortality (r = 0.437; p 0.0001) and SOFA score (r = 0.356; p 0.0001). Conclusions: Procalcitonin at discharge was positively correlated with 28-day mortality and SOFA score. The procalcitonin value at discharge can be used in the prognosis of the patient with surgical sepsis, but for better results the association between procalcitonin, SOFA score and the clinical status of the patient is recommended.

Paraclinical Aspects in Systemic Sclerosis.

Systemic sclerosis (SSc) is a chronic inflammatory disease with an autoimmune substrate that affects the skin and a large number of internal organs. The chronic inflammatory process is sustained by a wide range of cytokines and chemokines, which are discharged by inflammatory cells, with fibrosis and nail bed vascular changes (disorganized vasculature architecture with microhemorrhages, megacapillaries and areas without capillaries). Confocal microscopy contributes to the understanding of the molecular mechanism involved in chronic inflammation and mainly targets the field of research. Coherent optical tomography, capillaroscopy, and skin biopsy are useful for the differential diagnosis of SSc with other sclerodermoid syndromes. The immunological profile is a classification criterion for SSc and directs the diagnosis to the two subsets of the disease. Multisystemic damage requires evaluation with the help of a set of investigations specific to each affected organ, such as: diffusing capacity for carbon monoxide, forced vital capacity, 6-minute walk test, high-resolution computed tomography standard and reduced sequential, cardiac ultrasound and right cardiac catheterization. The current possibilities of diagnosis, treatment and monitoring are permanently adapting to new medical discoveries.

Old and new therapeutic strategies in systemic sclerosis (Review).

Systemic sclerosis (SSc) is a chronic inflammatory disease with autoimmune determinism having an incompletely known pathogenesis. Although not all links in the pathogenic chain are known, studies have shown that vasculopathy is the initial event and is followed by extensive fibrosis of the skin and internal organs. New therapeutic strategies have been developed in recent years, thanks to innovative research which has increased understanding of the disease mechanisms. No curative treatment for SSc is currently known. Therefore, the therapeutic target in SSc is its symptomatology. Peripheral vasculopathy can be improved by administering vasodilators. Endothelin receptor antagonists and 5-phosphodiesterase inhibitors have a double benefit, both on peripheral and on pulmonary vasculopathy. Several molecules with antifibrotic effects are currently available; however, further studies are needed to confirm their beneficial effects. Immunosuppressants manage to control the cutaneous and visceral fibrotic process, thereby remaining as first-line drugs in the treatment of SSc. Although biological therapy using rituximab and tocilizumab has shown promising results in pulmonary fibrosis, ongoing studies are needed to determine their exact impact. The authors have differing views on the triggering role of glucocorticoids and the benefits of angiotensin-converting enzyme inhibitors in renal scleroderma. Some aspects of this disease such as calcinosis and pruritus, asthenia, or joint and muscle damage, remain difficult to manage.

Single Fetal Demise in Twin Pregnancy-A Great Concern but Still a Favorable Outcome.

The incidence of multiple pregnancies has increased in the last decades, mostly explained by the more frequent use of ovulation induction drugs and assisted reproduction techniques. Although single fetal death in the first trimester of twin pregnancy is not an uncommon event nor does it have serious consequences on the survival fetus, the death of one fetus in the second or third trimester of pregnancy is associated with a serious increase in morbidity and mortality for the surviving co-twin. Preterm labor, preeclampsia, intrauterine growth restriction (IUGR), neurological complications or even the death of the surviving twin have been associated with single fetal demise after mid gestation. We present a very rare case of twin pregnancy with single fetal demise at 26 weeks of gestation successfully managed to term.

Gadolinium-based contrast agents in neurofibromatosis type 1 (Review).

Gadolinium (symbol Gd) is the chemical element with atomic number 64 and is aductile rare-earth metal, and +3 is its most frequent oxidation state. Gadolinium has an ionic radius of 0.99 Å and is nearly identical to the one of Ca2+. Gd3+ and Ca2+ can become toxic to biological systems if complete. It slowly reacts with atmospheric oxygen to form a black coating and in nature it is usually found only in an oxidized form. Gadolinium usually has impurities similar to those of other rare-earth metals, when separated, because of their similar chemical properties. Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is an autosomal dominant disorder of tissues of ectodermal origin, accounting for over 90% of neurofibromatosis cases. Diagnosis is primarily clinical and the central nervous system is commonly involved. The screening of the brain with magnetic resonance (MR) imaging is utilised to evaluate the patients with neurofibromatosis type 1 and as an aid in the diagnosis of asymptomatic patients when clinical criteria are not met.

Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan - a case report and short literature review.

Fetal lymphangioma, also known as cystic hygroma, is a hamartomatous congenital tumor which involves the fetal skin and the subcutaneous tissue. The most common site of appearance is in the neck region. Location of the lesion in the axilla as well as in other anathomical sites is very rare.Prenatal diagnosis can be made on ultrasound examination. Other structural or chromosomal anomalies are frequently associated with this diagnosis. The antepartum management and type of delivery should be set up by a multidisciplinary team.We present a rare case diagnosed with axillary lymphangioma during the second trimester morphological ultrasound 2D/4D scan.