Aims: An increasing number atypical femoral fractures (AFFs) have been reported in patients who have taken bisphosphonates (BPs) for several years. The European Medicines Agency (EMA) concluded in 2011 that these fractures were a class effect of the drugs. The United States Food & Drug Administration (FDA) updated labels for currently proprietary intravenous Reclast™ (zoledronic acid) have, since 2015, agreed with the EMA opinion. Section 17 of the FDA label states Reclast™ “can cause” these fractures. In this report, we present a clinical sub-class of cases of these fractures illustrating the potential for harm associated with switching BP therapy from an oral agent to Reclast™ (zoledronic acid).
Methodology: This paper presents 6 long-term case descriptions of patients, diagnosed with either osteopenia or osteoporosis, incurring a total of ten AFFs following a switch to intravenous zoledronic acid after a much longer and uncomplicated period on oral BPs. One additional case is presented to illustrate that AFFs may also occur with intravenous therapy alone. We have collected these cases directly from the patients and have confirmed all of the details by access to the original medical records, including the radiology and surgery reports. Our opportunity for access is fully described in the article.
Results and Opinion: Such a switch has never been investigated in a clinical trial. Based on the pharmacokinetics associated with the intravenous routes for these drugs, we present our reasoning why the untested therapy exemplified should be considered as potentially hazardous. Furthermore, we discuss the reported but rather unremarked wide individual variation in the rate of elimination of intravenously-administered BPs which may be an important factor in determining which individuals are at greatest risk of incurring an AFF.
Introduction: Edwards’s syndrome (Tr18) is a genetic disorder caused by trisomy of the chromosome 18, and its penetrance is cc. 1:5000. This Edwards-syndrome or trisomy18 associated with many different conditions and abnormalities, with the opportunity for the ultrasound screening. However, only invasive procedures can detect and diagnose this condition during intrauterine life.
Aim: To report our experience with sonographic findings in pregnancies complicated by trisomy 18.
Materials: This retrospective comparative study includes ten cases (N=10).
Methods: All of the cases were observed between 2012 and 2017. Prenatal ultrasound screenings were performed following the Fetal Medicine Foundation criteria system. Biochemical screenings were performed in an accredited laboratory in Hungary (N=6). Data collected by using Astraia software. The genetic diagnosis was performed by the local medical genetic departments. Non-invasive genetic testing results (N=5) were compared to the genetic diagnostics. The maternal demographics data, prenatal sonographic findings, and chromosomal analysis results were obtained by reviewing the ultrasound reports and medical records.
Results: The well-known markers of trisomy 18 has been performed as preliminary studies were observed. The most sensitive markers nuchal translucency thickness and hypoplastic nasal bone had proved their usefulness. Structural anomalies such as omphalocele, abnormal posturing of the hands, megacystis, heart defect, early-onset IUGR, single umbilical artery, and low fetal heart rate (bradycardia) were recorded. Detection rates of the tests/markers were 20-87.5%; while using three or more markers were the most effective.
Discussion: There is a need for better understanding of the phenotype of Edwards's syndrome. The recognition of the specific first- and mid-trimester sonographic markers of trisomy 18 may improve detection of this serious condition cost-effectively. NIPT is slightly just another screening test, and without ultrasonography, it is not recommended to use in the clinical practice.
Conclusion: These results once more confirm the need for genetic testing, and need of the better understanding of fetal anatomical anomalies, especially when presenting in a set. Early pregnancy screening could be very effective and give the opportunity and time the parents to make a good decision. Using multimarker screening of trisomy 18 may improve the detection rate up to 95-99%. These markers should have to implement to the screening protocols.
Neuroendocrine tumors of the small bowel are rare neoplasms and are most commonly found in duodenum and terminal ileum. They can present with symptoms of carcinoid syndrome, intestinal obstruction, bleeding or abdominal pain. The diagnosis is often not straight-forward because they are rare neoplasms and are frequently not readily considered in the differential diagnosis. Also clinical manifestations are nonspecific, lending the clinician no clue that points directly to this entity. Even in advanced stage in the presence of nodal and distant metastases the survival is still severeal years. The mainstay of treatment of small intestinal neuroendocrine tumors is surgery.
In this paper is presented a case of a middle-aged male patient with unusual and rare initial clinical manifestation of an ileal neuroendocrine tumor, causing an acute intestinal obstruction, requiring an emergency operation.
Neuroendocrine carcinoma of gall bladder are uncommon constitututing less than 2% of gallbladder malignancies and cases of gallbladder neuroendocrine cell carcinoma coexisting with adenocarcinoma are exceptionally rare. We present a 54 year old female with mixed adenoneuroendocrine carcinoma of gall bladder who presented with right upper quadrant pain, nausea and weight loss. She was investigated, operated and a diagnosis was made on histopathology following which chemotherapy was started.
Osteosarcomas are neoplasms of bone that present diagnosis and management challenges. Here we discuss a sixty-seven year old patient who presented with a swelling on the mandible. Complete excision with biopsy led to correct diagnosis and complete recovery for our patient, who remains well on review. Our case highlights the importance of integrating specific clinical and laboratory techniques to reach a correct diagnosis in cases where lesions present with deceptively benign characteristics.
