Fig 1 - uploaded by Rasoul Goli
Content may be subject to copyright.
Source publication
Introduction and importance
Cyclopia is a rare congenital disorder characterized by facial abnormalities. In this condition, the orbits of the eye are not properly divided into two cavities so that they can be seen either as a single eye field or two bilateral fields that are very close to each other. This syndrome affects the embryos that are eith...
Context in source publication
Context 1
... or close family marriage in their relatives. After the onset of labor signs, the mother went to the hospital and gave birth to a 37-week-and 5-day-old female fetus with a birth weight of 2300 g, height of 43 cm, and head circumference of 31. In the initial physical examination, an eye and a 4-cm proboscis were seen in the middle of the forehead (Fig. 1). The newborn had no nose, and his outer ears were normal. Although the newborn had micrognathia, no cleft lip or cleft palate was observed [see Additional file]. The newborn's skin was cyanotic, possibly due to hypoxia. His vital signs at birth were as follows: Temperature: 36.3, Heart Rate: 183 bpm, Respiration Rate: 69 bpm, Blood ...
Similar publications
Orofacial cleft disorders, including cleft lip and/or palate (CL/P), are one of the most frequently-occurring congenital disorders worldwide. The health issues of patients with CL/P encompass far more than just their anatomic anomaly, as patients with CL/P are prone to having a high incidence of infectious diseases. While it has been previously est...
Citations
... The etiology of this malformation remains unclear, but certain factors may increase the risk of its occurrence. These include genetic factors, multiparity, female gender, unexplained miscarriage, gestational diabetes, infections during pregnancy, Ultraviolet radiation (UV radiation), smoking and alcohol consumption [4]. This type of alobar holoprosencephaly is incompatible with life [5]. ...
... Holoprosencephaly is most often associated with other malformations such as microcephaly, cleft lip and palate, nasal agenesis and facial dysmorphia [4,10]. In Singh [11], cyclopia was associated with agnatia, synotia, astomia. ...
Cyclopia is the most severe form of alobar holoprosencephaly, characterized by the fusion of the two orbits into one. It is a genetic disease incompatible with life. It is most often associated with other craniofacial malformations such as microcephaly, cleft lip and palate, nasal agenesis and facial dysmorphia. The incidence of cyclopia varies from 1/13,000 to 1/20,000 births, and the etiology of this malformation has yet to be elucidated. These include genetic factors, multiparity, female gender, unexplained miscarriage, gestational diabetes, infections during pregnancy, UV radiation, smoking and alcohol consumption. It is probably less diagnosed in developing countries, where pregnancies are not normally monitored, and antenatal ultrasound is less common. We report the case of a 22-year-old pregnant woman, third gesture and two pares with two live children. She came on her own for a third-trimester ultrasound. She had a spontaneous pregnancy. She reported no previous history of a spontaneous pregnancy. Morphological ultrasound revealed cyclopia associated with microcephaly and hydrocephaly. We obtained informed consent from the couple. The patient exploded with a female fetus weighing 700 g, her cranial perimeter at 18 cm and thoracic perimeter at 34 cm. A clubfoot was noted on expulsion of the fetus, which is a particular feature of our case.
... The management of medication-induced nephrotoxicity and hepatotoxicity in this case involved a combination of discontinuing the offending agents, initiating prednisolone therapy, and providing supportive care [19][20][21][22][23][24]. The favorable response to treatment and subsequent recovery of the patient's renal function further emphasize the importance of early recognition and intervention in drug-induced complications [10]. ...
This case report details the journey of a 51-year-old man residing in a remote Iranian village, involved in livestock rearing, who was hospitalized due to Brucellosis contracted from consuming traditional cheese and dairy products. Initially treated with doxycycline and rifampin, complications arose during antituberculosis therapy, with the patient developing symptoms of nausea, vomiting, and edema alongside renal function deterioration necessitating medication cessation. Subsequent manifestations of proteinuria, toxic hepatitis, and nephrotic syndrome prompted renal biopsy, revealing drug-induced glomerular and tubular damage. Swift cessation of rifampicin, combined with prednisolone therapy, led to symptom amelioration, resulting in the cessation of dialysis and the patient's discharge within three weeks. This case underscores the intricate relationship between traditional cheese consumption, medication-induced renal complications, and the importance of timely intervention and appropriate management in achieving a successful patient outcome.
... They provide emotional support and help families navigate through the challenges associated with living with a rare genetic disorder. Genetic counseling also facilitates informed decision-making regarding family planning options and prenatal testing [17][18][19]. ...
Introduction and importance
Pyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distinctive facial features.
Case presentation
This case report presents the clinical manifestations, diagnostic challenges, and management strategies of an 8-year-old male with pyknodysostosis, an extremely rare genetic disorder characterized by skeletal and craniofacial abnormalities. The patient's clinical presentation, radiographic findings, genetic testing results, and treatment approach are discussed. Additionally, the importance of genetic counseling and multidisciplinary care in managing this condition is emphasized.
Clinical discussion
A multidisciplinary approach involving orthopedics, genetics, dentistry, and psychological support is crucial for managing patients with pyknodysostosis. Regular follow-up visits, careful monitoring of fractures, and appropriate interventions can improve the patient's quality of life and reduce complications.
Conclusion
The importance of early recognition, genetic testing, and multidisciplinary care is emphasized for effective treatment and support. Further research is needed to enhance our understanding of this rare genetic disorder and develop targeted therapies.
... Infants are the future capital of human society. Therefore, it is very important to pay attention to this group [1] . According to the results of various studies, birth weight is one of the most important factors determining the survival of the infant's physical and mental development, and it is a valid sign of intrauterine growth [2] . ...
ARTICLEINFO
Handling Editor: Prof. L.H. Lash
Keywords:
Liver enzymes Liver injury Prognosis Mortality COVID-19
ABSTRACT
Liver injury in patients with COVID-19 infection may directly result from viral infection of liver cells, immune- mediated inflammation such as cytokine storm, and hypoxia resulting from pneumonia. Additionally, liver injury may occur due to drug toxicity and may lead to liver failure in critically ill COVID-19 patients. Given the sig- nificance of the liver and its vulnerability in COVID-19 patients, this study aimed to investigate the correlation of serum liver enzymes with the prognosis of hospitalized COVID-19 patients at Imam Khomeini Hospital in Urmia. This descriptive-analytical study involved hospitalized COVID-19 patients at Imam Khomeini Hospital in Urmia. Patient data were extracted from medical records and recorded in checklists, including demographic charac- teristics (age and gender), serum levels of Alanine Aminotransferase (ALT) and Aspartate Aminotransferase (AST), and patient outcomes (recovery and mortality). Subsequently, the serum levels of AST and ALT in recovered and discharged patients were compared with those of deceased patients. The mean AST level was higher in deceased patients compared to recovered and discharged patients, and this difference was statistically significant (P <0.033). Therefore, overall, higher AST levels in COVID-19 patients may indicate a worse prog- nosis. Similarly, the mean ALT level was higher in deceased patients compared to recovered and discharged patients, and this difference was statistically significant (P <0.015). Thus, higher ALT levels in COVID-19 pa- tients may generally indicate a worse prognosis. Continuous monitoring of liver enzymes in patients with a poor prognosis can lead to early identification and, to the extent possible, prevention of complications and mortality through enhanced care.
... When a baby is diagnosed with this severe birth defect in utero, the parents can opt to terminate the pregnancy, as the ectopia cordis survival rate is around 10% [11] . Newborns with lethal congenital malformations, even if they survive longer than expected, become severely impaired and palliative care should be considered [12] . On the other hand, infants with ectopia cordis who are born with their hearts partially or completely outside of their bodies, usually have other organ structures that also develop abnormally [5] . ...
Introduction and importance:
Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be associated with other congenital abnormalities.
Case presentation:
This case report is of a 34-week- and 6-day-old female fetus with a birth weight of 2040 g, a height of 41 cm, and a head circumference of 32 cm. The initial physical examination revealed a responsive newborn with an externalized heart outside the chest, with pericardium protection. In addition, a thoracic wall defect was detected suggesting incomplete formation of septum bone. Moreover, in this case, the echocardiography report showed a multiple ventricular septal defect.
Conclusion:
The management of ectopia cordis is a challenge for any obstetrician and pediatric surgeon due to its rarity. It causes mental agony and anxiety to the parents. With early diagnosis, termination of pregnancy can be one of the options. Once it is diagnosed late, it needs a multidisciplinary approach, and the services of a very experienced pediatric surgeon to improve the prognosis.
... The goals of palliative care are to prevent and relieve pain and provide support for families. Such care includes planning with the family about the practicalities of the death and continuing family support after the patient dies [18,19]. ...
Introduction and importance:
Ewing's sarcoma, a highly malignant bone tumor, typically affects the pelvis and long bones of the lower extremities in children and young adults; primary involvement of the skull is rare. Primary Ewing's sarcoma arising from the skull is very rare. In most cases, this disease is fatal, although the prognosis of Ewing sarcoma improves with radiation and chemotherapy after surgery.
Case presentation:
This case is about 25-year-old woman who was referred to Omid Hospital in Urmia because of frequent headaches, where a tumor mass was found according to the results of CT scan. Biopsy confirmed small round cell sarcoma as the diagnosis. Chemotherapy was ineffective and tumor growth was unstoppable, causing the patient to die after 3 months.
Clinical discussion:
Ewing's sarcoma can affect various parts of the human body, including bone and soft tissue, but rarely the skull. Ewing's sarcoma typically grows extradural and often reaches a very large size before invading the skull or being detected clinically.
Conclusion:
In most cases, Ewing's sarcoma is fatal, although the prognosis of this disease improves with radiation and chemotherapy after surgery.
... The goals of palliative care in the neonatal setting are to prevent and relieve neonatal pain and suffering and to provide support to families. Such care includes planning with the family about the practical aspects of death and continuing to support the family [20,21]. ...
Unlabelled:
INTRODUCTION AND IMPORTANCE: soft tissue sarcoma (STS) is a type of cancer that can affect connective tissue. Diagnosis of this malignant tumor is difficult, and complications are related to the pressure it can exert on surrounding body organs. Up to 50 % of STS patients develop metastatic disease, which greatly affects the prognosis and is challenging for the treating physician.
Case presentation:
This case report is about a 34-year-old woman who was found to have significant growth of malignant tumor in her lower back due to misdiagnosis and negligence about her disease. After the cancer invaded the abdominal cavity, she died from related complications.
Clinical discussion:
STS are among the rare malignant tumors, and the mortality rate of these cancers is very high because they are often not properly diagnosed.
Conclusion:
Educating medical personnel, especially primary care physicians, about the symptoms and manifestations of STS can make a significant contribution to successful treatment. Due to the complexity of treatment, any soft-tissue swelling suspected of malignancy is best referred directly to a sarcoma center, where therapeutic management is carefully planned by an experienced multidisciplinary team.
... Sur le plan Clinique, il existe une grande variabilité Clinique. En effet diverse tableaux malformatifs ont été rapportés dans la littérature [1,3,6,8]. Sur le plan paraclinique, L'échographie anténatale a un grand intérêt diagnostique. Elle permet de poser le diagnostic de la malformation dès le premier trimestre de la grossesse ce qui est suffisante pour poser l'indication d'une interruption de la grossesse [4,9]. ...
Cyclopia is the most severe form of alobar holoprosencephaly. It is a rare congenital malformation characterized by the fusion of the two orbits and the presence of a single eye in the middle of the forehead, hence its name. It is incompatible with life and presents a heterogeneous clinical picture. Antenatal ultrasound is essential for early diagnosis. However, in developing countries where pregnancies are poorly monitored or not, this malformation is most often discovered in the delivery room. We report a case of cyclopia in a newborn discovered in the delivery room in a context of head-last retention. The objective was to share the experience of our service on this pathology and to show the need for antenatal diagnosis through optimal monitoring of pregnancy in our regions.
... Treatment methods for patients with genetic disorders will include rehabilitation and palliative cares. In addition, genetic counseling and prenatal diagnosis with the help of ultrasound are recommended [15]. ...
Introduction and importance
The most common congenital defect involving the face and jaws is cleft lip and palate. Exactly where they appear is determined by the locations at which fusion of the various facial processes failed to occur. The lip or the lip and palate together fail to close in approximately 1-1.5 in every 1,000 babies born.
Case presentation
The present case report is of a 36-week- and 4-day-old male fetus with a birth weight of 2,100 gr, a height of 41 cm, and a head circumference of 35 cm. He was born to a 42-year-old mother by Cesarean section at Kosar Obstetrics and Gynecology Hospital, Urmia, Iran. In the initial physical examination, hydrocephalus, eye abnormalities, cleft lip, and cleft palate were observed. Unfortunately, the newborn expired two days after birth.
Clinical discussion
The main characteristics of this syndrome are mental retardation, anophthalmia or microphthalmia, abnormal nostrils, and disorders of the central nervous system.
Conclusion
Early diagnosis during pregnancy using diagnostic methods and proper management of this abnormality should be strongly emphasized to prevent further harm to the newborn and the mother with this syndrome.
... In the neonatal intensive care unit (NICU), intravenous catheter placement is a prevalent approach for venipuncture, administering intravenous fluids, intravenous nutrition, and drug [1]. Phlebitis, vessel rupture and drug leaks or serum are the most complication of peripheral venous catheterizations in neonates [2]. ...
Introduction and importance
Phlebitis, vessel rupture and drug leaks or serum are the most complication of peripheral venous catheterizations in neonates. Extravasation injury is characterized by the leakage of injected medications from blood vessels causing injury to the surrounding tissues, skin necrosis, and even amputation.
Case presentation
This case was a 37-week- and 6-day-old male neonate with a birth weight of 2150 g, a height of 41 cm, and a head circumference of 31 cm who was born to a 28-year-old mother by cesarean section at Mahzad Obstetrics and Gynecology Hospital, Urmia, Iran. On the fourth day of hospitalization at neonatal intensive care unit (NICU), an extravasation injury happened in the neonate's left hand in size approximately 2 × 2 cm by a peripheral intravenous catheter. The extravasation did not heal despite extensive intravenous antibiotic therapy and rinsing with normal saline. The neonate was referred to our wound management team. The extravasation injury was treated by using of honey antibacterial wound dressing (Medihoney™) twice a day for a month. The infant's extravasation injury was relatively healed after two weeks, and he was discharged from our wound treatment team after four weeks in good general condition.
Clinical discussion
Neonates are more susceptible to extravasation injury compared to adults as their peripheral vascular walls are more sensitive and thinner.
Conclusion
This case revealed that honey antibacterial wound dressing (Medihoney™) could be an alternative to other common dressings in neonates suffering from extravasation injury.
