Oral Surgical and Haematological Management in a Female Patient with Turner Syndrome and Moderate Haemophilia A: Clinical Observation and Case Report

Introduction: Turner syndrome patients are at higher risk of having X-linked recessive disorders that could have serious clinical implications. Somatic abnormalities that may coexist with coagulation disorders determine the medical procedure approaches. Case Report: We report a 29-year-old female showing dysmorphia, distinctive physical features, and coagulation disorder, referred for maxillofacial surgery. Based on clinical symptoms, the patient was diagnosed with Turner Syndrome, and haemophilia A. Karyotyping confirmed classical monosomy X in all analysed blood cells. Molecular studies revealed hemizygous point mutation c.5096A>G (p.Tyr1699Cys) in Factor VIII gene, in exon 14. This missense mutation disturbs the interaction of Factor VIII with the von Willebrand factor, causing moderate haemophilia in the proband. The article presents the clinical history and preparation of our patient for oral surgical and dental surgery treatment. Conclusion: Turner syndrome patients require special attention due to the higher probability of congenital haemorrhagic diathesis. Maxillofacial surgery interventions in Turner syndrome and congenital haemorrhagic diathesis patients require individual patient preparation preventing post-extraction bleeding and ensuring proper local haemostasis.

Postępowanie w stanach nagłych u pacjentów z hemofilią

Haemophilia is congenital with haemorrhagic diathesis due to deficiency of VIII or IX o coagulation factor, which is manifested by an increased tendency to bleeds. The therapeutic procedure during bleeding is intravenous administration of missing IX or VIII coagulation factor. The article presents a diagram of emergency procedures during bleeding in different locations. When discussing these cases, we would like to emphasize that, regardless of the type of bleeding or injury, correct treatment is first and foremost substitution of the missing coagulation factor and then of imaging and laboratory diagnostics. Delayed administration of a factor concentrate may cause a risk to the patient's life.

Pathological Findings in Accidental Electrocution in a Horse (Case Report)

Recently, the veterinarians are dealing with a number of cases that require forensic expertise. Such a circumstance could be the accidental electrocution in animals, one of the causes of unnatural death. There is a scarcity with reference to the pathological findings in veterinary forensic medicine. In this paper, we present the main lesions that occurred in a horse with accidental electrocution that was presented for complete necropsy survey. A horse corpse was sent to the Pathology Department (Faculty of Veterinary Medicine, Cluj-Napoca, Romania) for a full medical survey. Preliminary results and external examination: the body was in rigor mortis; from the nasal cavities drained out reddish foam and in the mouth was observed the presence of ingested feed (straw) that was not chewed, suggesting a quick death. The findings detected after internal examination of the carcass were poor blood coagulability, haemorrhagic diathesis throughout the body, with haemorrhages of various sizes in different body regions (e.g., muscles of the withers, in the gluteal muscle, the mucosa of epiglottis, larynx, trachea, in the interstitium of the lung, and ecchymosis in the left kidney). Some other lesions detected were infarcts and haemorrhages in the fundic region of the stomach’s mucosa. In electrocution, haemorrhages are most often located in the respiratory tract, aspect observed in our case too. However, the diagnosis of electrocution has to corroborate the necropsy findings (which are not specific), with some other data such as the fulminant death and inspection of power source.

Assessment of Safety and Efficacy of a New Intravenous Immunoglobulin (IGIV3I 10% Grifols) In Subjects with Chronic Immune Thrombocytopenia

Abstract 4669 Two similarly designed prospective, uncontrolled, open-label clinical trials were planned to assess the safety and efficacy of a new intravenous immunoglobulin (IVIG), IGIV3I 10% Grifols, in subjects with chronic immune thrombocytopenia (ITP) in the USA, Canada and Europe (Spain, Russia and the United Kingdom). Subjects were candidates to be enrolled if they had a diagnosis of chronic ITP and a baseline platelet count ≤ 20 × 109/l. Eligible subjects received treatment with IGIV3I 10% Grifols 1g/kg for 2 consecutive days or 0.4 g/kg for 5 consecutive days. The primary efficacy endpoint was the response rate, defined as the proportion of subjects reaching or exceeding the threshold value of 50 × 109/l on or before day 8 (American study) or on day 30 (European study) where day 1 is the day of the first infusion. Secondary efficacy endpoints were the time to response, defined as the number of days elapsed from day 1 to achievement of the threshold value; duration of response, defined as the number of consecutive days with a platelet count known to be ≥50 × 109/l; the maximum (peak) platelet count and regression of haemorrhagic diathesis for those subjects presenting with bleeding signs at baseline. Safety endpoints included adverse events (AEs), physical examinations, vital signs and clinical laboratory parameters monitoring. A total of 27 subjects (18 adults and 9 pediatrics) have been enrolled, i.e. administered with at least one infusion of the product at any dose, in the study. Twenty-four (24) subjects (89%) were considered responders. This proportion was higher in pediatric subjects (9/9, 100%) than in adult subjects (15/18, 83%). The mean time to response was 1.6 days (Standard Deviation (SD) 0.9); the mean duration of response was 14.0 days (SD 12.1) and the mean maximum platelet count was 263 × 109/l (SD 195.6). Twenty-three (23) subjects (all the pediatric subjects 9/9 and 14/18 adults) presented with some sign of bleeding at baseline. All subjects (23/23, 100%) experienced an improvement in the haemorrhagic diathesis, regardless of some of them being considered non-responders according to the platelet count criterion. A total of 92 AEs potentially related to study drug were reported. The most common of these were headache (25 events), nausea (8 events), pyrexia (7 events) and chills (6 events). Only 1 AE was reported as definitely related to study drug, an event of palmar erythema. Two serious AEs (SAE) potentially related to the study drug were reported in 2 subjects. One of them was an unexpected laboratory alteration which consisted in leukopenia and decreased hemoglobin and advised to maintain the subject hospitalized for further observation during the weekend. The reaction was transient, without complications or other clinical symptoms and total recovery of the normal laboratory values. The second SAE was an event of thrombosis in the right humeral vein, in a patient with a number of predisposing medical conditions. At the time of discharge the patient's overall condition was satisfactory. Analysis of AEs, clinical laboratory values, physical assessments and vital signs did not indicate any safety concerns for subjects receiving the study drug and are in line with those expected for the ITP population treated with IVIG. Both primary and secondary efficacy endpoints show a good response to the product in terms of rapid elevation of platelet counts to an hemostatic level in line with what is expected for an IVIG product. Moreover, the improvement of the baseline bleeding diathesis even in patients considered as non-responders according to the platelet count criterion is highly suggestive of the clinical efficacy of the product. Overall, these results indicate that treatment with the new IGIV3I 10% Grifols is safe and efficacious for rapidly increasing platelet counts in chronic ITP subjects and improving their bleeding diathesis. Disclosures: Khojasteh: Grifols S.A.: Research Funding. Kato:Grifols S.A.: Research Funding. Parikh:Grifols S.A.: Research Funding. Singleton:Grifols S.A.: Research Funding. Tebbi:Grifols S.A.: Research Funding. Cromwell:Grifols S.A.: Research Funding. Fu:Grifols S.A.: Research Funding. Kessler:Grifols S.A.: Research Funding. Letzer:Grifols S.A.: Research Funding. Ritchie:Grifols S.A.: Research Funding. Sexauer:Grifols S.A.: Research Funding. Saxena:Grifols S.A.: Research Funding. Sirpal:Grifols S.A.: Research Funding. Torres:Grifols S.A.: Research Funding. Loriya:Grifols S.A.: Research Funding. Kovaleva:Grifols S.A.: Research Funding. Sandoval:Grifols S.A.: Research Funding. Sanz:Grifols S.A.: Research Funding. Julià:Grifols S.A.: Research Funding. Montañés:Grifols S.A.: Employment. Navarro:Grifols S.A.: Employment.